Materiały źródłowe

• #1 Craniosynostosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/craniosynostosis/symptoms-causes/syc-20354513

  Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a disorder present at birth in which one or more of the fibrous joints between the bones of your baby’s skull (cranial sutures) close prematurely (fuse), before your baby’s brain is fully formed. Brain growth continues, giving the head a misshapen appearance. […] Treating craniosynostosis involves surgery to correct the shape of the head and allow for brain growth. Early diagnosis and treatment allow your baby’s brain adequate space to grow and develop. […] Early diagnosis and treatment are key.

• #1 Craniosynostosis | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/craniosynostosis

  Craniosynostosis requires evaluation by specialists, such as a pediatric neurosurgeon or a specialist in plastic and reconstructive surgery. Diagnosis of craniosynostosis may include: […] Physical exam. Your health care provider feels your baby’s head for features such as suture ridges and looks for facial differences such as unbalanced features. […] Imaging studies. A computerized tomography (CT) scan or magnetic resonance imaging (MRI) of your baby’s skull can show whether any sutures have fused. Cranial ultrasound imaging may be used. Fused sutures can be identified by their absence because they’re invisible once fused or by a ridging of the suture line. A laser scan and photographs also may be used to make precise measurements of the skull shape. […] Genetic testing. If your health care provider suspects an underlying genetic syndrome, genetic testing may help identify the syndrome.

• #2 Craniosynostosis | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/craniosynostosis

  Craniosynostosis requires evaluation by specialists, such as a pediatric neurosurgeon or a specialist in plastic and reconstructive surgery. Diagnosis of craniosynostosis may include: […] Physical exam. Your health care provider feels your baby’s head for features such as suture ridges and looks for facial differences such as unbalanced features. […] Imaging studies. A computerized tomography (CT) scan or magnetic resonance imaging (MRI) of your baby’s skull can show whether any sutures have fused. Cranial ultrasound imaging may be used. Fused sutures can be identified by their absence because they’re invisible once fused or by a ridging of the suture line. A laser scan and photographs also may be used to make precise measurements of the skull shape. […] Genetic testing. If your health care provider suspects an underlying genetic syndrome, genetic testing may help identify the syndrome.

• #3 Craniosynostosis: Causes, Symptoms, Treatment & Types

  https://my.clevelandclinic.org/health/diseases/6000-craniosynostosis

  Craniosynostosis can cause increased pressure within the skull. This happens when your babys brain continues to grow when theres no room for it within the skull. Intracranial pressure can limit brain growth and damage brain tissue, which leads to complications. Treatment is available to reduce your babys risk of complications. […] After your baby is born, their healthcare provider will perform a physical exam. Theyll diagnose craniosynostosis by feeling for soft spots on your babys head. Theyll look for ridges that signify fused skull sutures. Your babys provider will also measure their head circumference. Additional imaging tests, like an X-ray or CT scan, can confirm the diagnosis. […] Craniosynostosis treatment varies depending on the type, severity and symptoms that affect your child. These may include: Helmet therapy. Babies with mild craniosynostosis may wear a special medical helmet. This helmet gently reshapes their skull over time. Surgery. Surgery can reshape your childs skull, relieve increased intracranial pressure and allow your babys brain room to grow and develop. A surgeon will determine the type and timing of the surgery depending on the severity of the condition. Your baby might need surgery within their first year. […] Your childs outlook (prognosis) varies depending on their overall health and how many sutures in their skull are closed. Most children who receive a timely diagnosis and undergo treatment have a good prognosis. Treatment within your babys first year minimizes developmental problems.

• #4 Craniosynostosis | Birth Defects | CDC

  https://www.cdc.gov/birth-defects/about/craniosynostosis.html

  Craniosynostosis usually is diagnosed soon after a baby is born. […] Usually, the first sign of craniosynostosis is an abnormally shaped skull. Healthcare providers can identify craniosynostosis by feeling the baby’s head for hard edges along the sutures and unusual soft spots. Other signs may include: […] The provider also will look for any problems with the shape of the baby’s face. […] The healthcare provider will usually request tests to help confirm the diagnosis. For example, a CT or CAT scan (special x-ray test) can show the details of the skull and brain.

• #5 Craniosynostosis: Types, causes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/223128

  To diagnose craniosynostosis, a pediatrician will normally look at and measure the babys head and feel for ridges in the sutures around the skull. […] Additional tests can confirm the diagnosis in more detail. […] Imaging tests, such as CT scans and X-rays, can show which sutures have fused. This is important if surgery is likely. […] Since there may be genetic factors, the doctor may take a sample of the babys blood for genetic testing.

• #6 The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8467503/

  Craniosynostosis, the premature closure of cranial sutures, is one of the principal causes of pediatric skull deformities. […] Craniosynostosis are primarily diagnosed with accurate physical examination, skull measurement and observation of the deformity, but the radiological support currently plays an increasingly important role in confirming a more precise diagnosis and better planning for therapeutic interventions. […] The first diagnosis of typical cases of craniosynostosis is usually clinical, and the inspection should determine whether a synostosis is present, which type, whether there are any features suggesting a syndromic form and whether and which management is required. […] Even though diagnosis can be made after a clinical evaluation, it may be challenging to establish the extent of cranial involvement by clinical examination alone, and the diagnosis is usually confirmed by radiological examinations, especially in compound synostosis and when a surgical treatment is planned.

• #7 The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review

  https://www.mdpi.com/2227-9067/8/9/727

  Craniosynostosis, the premature closure of cranial sutures, is one of the principal causes of pediatric skull deformities. It can cause aesthetic, neurological, acoustic, ophthalmological complications up to real emergencies. Craniosynostosis are primarily diagnosed with accurate physical examination, skull measurement and observation of the deformity, but the radiological support currently plays an increasingly important role in confirming a more precise diagnosis and better planning for therapeutic interventions. […] The first diagnosis of typical cases of craniosynostosis is usually clinical, and the inspection should determine whether a synostosis is present, which type, whether there are any features suggesting a syndromic form and whether and which management is required. Even though diagnosis can be made after a clinical evaluation, it may be challenging to establish the extent of cranial involvement by clinical examination alone, and the diagnosis is usually confirmed by radiological examinations, especially in compound synostosis and when a surgical treatment is planned. Imaging is indeed essential for an accurate diagnosis, operative planning, post-surgical evaluation and identification of coexisting anomalies and complications.

• #8 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  Craniosynostosis, the premature fusion of one or more cranial sutures, presents a spectrum of challenges ranging from altered skull morphology to potential neurodevelopmental impairment. This course provides an in-depth review of the pathophysiology, clinical presentations, and diagnostic approaches, including imaging modalities and genetic considerations. […] Determine the most effective imaging studies to confirm the diagnosis of craniosynostosis. […] Although craniosynostosis is primarily diagnosed clinically, radiologic imaging is often used to support and confirm the diagnosis. […] The gold standard for imaging is a computed tomography (CT) scan with three-dimensional reconstructions, which readily assess all sutures. CT scans can also help assess the ventricles in cases with underlying hydrocephalus.

• #8 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  If a syndromic case is suspected, genetic testing should be performed, particularly for FGFR gene mutations. […] Due to the risk of developing elevated intracranial pressure, especially in cases of syndromic craniosynostosis, intracranial pressure monitoring may be indicated. Elevated intracranial pressure results from underlying hydrocephalus, osseous changes of the skull base affecting venous outflow, and midface hypoplasia resulting in sleep apnea. […] Follow-up is recommended to determine the need for further surgical correction.

• #9 Craniosynostosis – Wikipedia

  https://en.wikipedia.org/wiki/Craniosynostosis

  Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant’s skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. […] The evaluation of a child suspected to have craniosynostosis is preferentially performed in a craniofacial center. The three main elements of analysis include medical history, physical examination and radiographic analysis. […] Radiographic analysis by performing a computed axial tomographic scan is the gold standard for diagnosing craniosynostosis. […] Plain radiography of the skull may be sufficient for diagnosing a single suture craniosynostosis and should therefore be performed, but the diagnostic value is outweighed by that of the CT-scan.

• #10 The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8467503/

  Imaging is indeed essential for an accurate diagnosis, operative planning, post-surgical evaluation and identification of coexisting anomalies and complications. […] The advent of MRI opened up new possibilities for studying brain anomalies associated with craniosynostoses and, thanks to technological progress, for recognizing and distinguishing cranial bones from cranial sutures. […] Ultrasound (US) examination is a fast, low-cost, radiation-free method, and it can be considered as a continuation of the clinical examination when performed bedside. […] The role of CT in the diagnosis of craniosynostosis grew and became increasingly fundamental; in fact, countless scientific publications affirm that the diagnosis of craniosynostosis relies on physical examination and radiographic studies, including plain radiography and computed tomography (CT). […] The superior imaging quality of CT scans on cortical bones and the possibility of creating 3D reconstructions were one of the major limitations of wider applicability of MRI, but advancements in technologies are working hard to propose MRI as a no-radiation alternative in this field.

• #11 Craniosynostosis Diagnosis and Treatment – Dell Children’s Craniofacial Team of Texas

  https://craniofacialteamtexas.com/craniofacial-conditions-we-treat/craniosynostosis-diagnosis-and-treatment/

  Although the diagnosis of craniosynostosis is made by clinical exam, we do recommend a unique set of imaging studies to confirm the diagnosis, evaluate brain morphology, determine the degree of brain compression, and evaluate the venous drainage of the brain. All of these factors affect how we approach and conduct each surgical case. Since the finding of these studies can significantly affect steps we take during the operation, we prefer to obtain these studies closer to the time of surgery. […] Two types of studies provide us with all the information that we need: Low radiation dose, Craniofacial CT and Fast-acquisition MRI. […] Since a baby born with a single suture fusion is the most common presentation of the disease, we will focus on this group when addressing this very important question. There are a couple of natural biological facts and development/growth issues that affect our protocol when it comes to treating babies with single suture craniosynostosis.

• #11 Craniosynostosis Diagnosis and Treatment – Dell Children’s Craniofacial Team of Texas

  https://craniofacialteamtexas.com/craniofacial-conditions-we-treat/craniosynostosis-diagnosis-and-treatment/

  The Craniofacial Team of Texas specializes in the diagnosis and treatment of craniosynostosis. Craniosynostosis (from cranio meaning skull, syn meaning together, and ostosis relating to bone) is a condition in which an infant’s skull bones prematurely fuse, thereby changing the growth and shape of the skull. This may result in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment in development. […] History and physical examination are central to the diagnosis of craniosynostosis. The experience of our team of pediatric neurosurgeons, pediatric craniofacial surgeons, and craniofacial pediatricians allows for the proper evaluation of the unique head shapes caused by single and multiple suture fusions. Although the diagnosis is made clinically, we obtain radiological studies closer to the time of surgery when they are the most relevant to surgical planning.

• #11 Craniosynostosis Diagnosis and Treatment – Dell Children’s Craniofacial Team of Texas

  https://craniofacialteamtexas.com/craniofacial-conditions-we-treat/craniosynostosis-diagnosis-and-treatment/

  We know that any skull affected by craniosynostosis lacks adequate growth potential for the rapidly growing brain. Additionally, surgery itself affects the growth potential as well. The expansion of the skull, regardless of which surgery technique is used, needs to be enough to accommodate the brain volume of an 18-24 month old child. […] Our goal is to expand the skull and reform it in a single procedure that minimizes chance of requiring a second procedure to expand the skull and/or patch any defects (holes) in the skull. Taking this into account, one would conclude that surgery should at least be delayed past 8 months of age. […] Our protocols focus on performing a single procedure at 9 months of age. In reality, anytime between 8-10 months of age gives us very consistent and reliable results.

• #12 Craniosynostosis: Diagnosis, Pitfalls, and Management. What the R…: Ingenta Connect

  https://www.ingentaconnect.com/contentone/asnr/ng/2017/00000007/00000005/art00004;jsessionid=2nd1ibtnoq532.x-ic-live-01

  Craniosynostosis is an important clinical entity in the pediatric population and results in significant cosmetic and health effects. […] Radiologic evaluation, including diagnosis and characterization, is important because surgical correction techniques have improved, which results in decreased morbidity and improved outcomes. […] Advanced imaging techniques such as 3-dimensional CTs are essential for an accurate diagnosis, surgical planning, and posttreatment evaluation. […] The authors briefly reviewed the clinical features of craniosynostosis and presented a 3-dimensional CTbased pictorial review of radiologic findings and associated anomalies in sporadic, syndromic, and secondary forms of craniosynostosis. […] Craniosynostosis needs to be differentiated from positional plagiocephaly and other pitfalls. […] Treatment options usually include surgical management for primary craniosynostosis and conservative management for secondary craniosynostosis.

• #13 Craniosynostosis: Causes, Symptoms, Diagnosis and Treatment | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/craniosynostosis

  Craniosynostosis is a condition where a babys skull bones join together too early. […] Doctors can fix it with surgery to help the skull grow normally. Early treatment is important to prevent any issues with brain development. […] How Is Craniosynostosis Diagnosed? […] Sometimes, craniosynostosis can be diagnosed with an office examination alone. Often, imaging will be used to more closely examine the cranial sutures and confirm the diagnosis. […] At Nationwide Childrens we use a special CT scan that provides 3D views of the skull using an ultra-low radiation dose equal to that of only a few regular x-rays.

• #14 Pediatric Craniosynostosis Diagnosis | San Antonio | University Health

  https://www.universityhealth.com/pediatrics/services/cleft-and-craniofacial-center/craniosynostosis/testing

  Seek an evaluation if your newborn, infant or young child has visible signs of craniosynostosis, such as: […] If craniosynostosis goes untreated, pressure can build up and cause developmental problems or brain injury. […] Take advantage of our experience in diagnosing craniosynostosis. Our experts rely on a physical exam, head measurements and imaging tests such as an ultrasound or CT scan (computed tomography) of the head to diagnose your child. […] We use a special CT scanner that provides detailed 3D views of the skull with less radiation exposure to your child. This advanced technology helps us see the head sutures more accurately.

• #15 Craniosynostosis | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/craniosynostosis

  Your clinician may diagnose craniosynostosis based on his or her symptoms along with a detailed patient history and a full exam that includes a careful assessment of the shape of the skull. […] In rare cases, craniosynostosis may be diagnosed before birth by a prenatal ultrasound or magnetic resonance imaging (MRI). […] To diagnose craniosynostosis, often no additional tests are needed other than assessment by an expert. Your child’s clinician may also use one or more of the following tests: […] CT scans use X-ray equipment and powerful computers to create detailed images of the head and brain, including skull sutures and bones. This is the main test used for craniosynostosis. […] MRIs uses a combination of electromagnets and radio waves to take detailed images of the brain. […] Most, but not all, children with craniosynostosis need surgery to relieve pressure on the brain and correct the shape of the head.

• #15 Craniosynostosis | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/craniosynostosis

  Craniosynostosis is a condition in which the fibrous connections, between the bones of the skull, called sutures, grow together (fuse) too early during a child’s development. It most commonly affects only one of the sutures, but it can also occur in more than one. This fusion can cause problems with brain and skull growth. In some cases, it can lead to developmental delays and cognitive problems, especially if more than one suture is involved. Some children with craniosynostosis can also develop high pressure inside the skull, called increased intracranial pressure. […] Craniosynostosis is often noticeable at birth, but can also be diagnosed in older children. This condition sometimes runs in families, but most often it occurs randomly. […] Many children with craniosynostosis have visible symptoms — such as a misshapen or asymmetrical head — at birth. Other times, a child’s craniosynostosis is diagnosed during a routine physical examination.

• #15 Craniosynostosis | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/craniosynostosis

  Surgery for craniosynostosis often works best in children under age 1, since the bones are still soft and pliable, making them easier to move. […] The surgeon may use: […] Minimally invasive surgery to release the sutures that are fused […] Reconstructive surgery to reposition the skull bones to allow for normal growth and development. […] At Boston Children’s Hospital, our clinicians in Neurosurgery and Plastic Surgery have extensive experience diagnosing and treating craniosynostosis in infants and children of all ages — using minimally invasive procedures whenever possible.

• #16 The Radiology Assistant : Craniosynostosis

  https://radiologyassistant.nl/pediatrics/head-neck/craniosynosthosis

  MRI has a main role in detecting associated intracranial malformations and complications from multisutural craniosynostosis. […] Surgery should be conducted timely in order to reach an optimal outcome. […] A metopic ridge alone is not equivalent to trigonocephaly. […] An absent anterior fontanelle does not have to be a reason for concern.

• #16 The Radiology Assistant : Craniosynostosis

  https://radiologyassistant.nl/pediatrics/head-neck/craniosynosthosis

  It is also possible to evaluate the sutures with black bone MRI, but as MRI often requires anaesthesia this will mainly be done in conjunction with an indication for evaluation of intracranial abnormalities and complications. […] Positional or deformational plagiocephaly refers to the flattening of the head due to the baby’s preferred position. It is not a synostosis, but the most common form of temporary skull deformity. […] Scaphocephaly means boat shaped skull and results from a premature closure of the sagittal suture (arrow). […] Trigonocephaly refers to the triangular head form resulting from premature closure of the metopic suture (arrows). […] Brachycephaly results from the premature closure of both coronal sutures. […] One of the coronal sutures has closed prematurely. […] In this case the lambdoid suture has closed prematurely. It is the main differential diagnosis for positional plagiocephaly (see above).

• #16 The Radiology Assistant : Craniosynostosis

  https://radiologyassistant.nl/pediatrics/head-neck/craniosynosthosis

  In this review we will discuss imaging in craniosynostosis. Craniosynostosis refers to the premature closure of sutures of the skull and results in an abnormal head shape. It is a rare disorder with a prevalence of around 1 in 1500. Most cases occur already prenatally and will be diagnosed in the first few months of life. It may also be diagnosed intrauterine, but antenatal imaging is beyond the scope of this article. […] In case of a clinical high suspicion of a craniosynostosis timely reference to a specialized center may be advisable before diagnostic imaging is started (figure). […] When a craniosynostosis is suspected, the first line imaging will be ultrasound or x-rays, depending on local expertise and preferences. […] Because of lack of radiation, ultrasound is the preferred method. In case of high clinical suspicion low dose 3D CT is preferred.

• #17 The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review

  https://www.mdpi.com/2227-9067/8/9/727

  The advent of MRI opened up new possibilities for studying brain anomalies associated with craniosynostoses and, thanks to technological progress, for recognizing and distinguishing cranial bones from cranial sutures. Ultrasound (US) examination is a fast, low-cost, radiation-free method, and it can be considered as a continuation of the clinical examination when performed bedside. US can be also applied for prenatal diagnosis and as a follow-up tool. […] In these decades, the role of CT in the diagnosis of craniosynostosis grew and became increasingly fundamental; in fact, countless scientific publications affirm that the diagnosis of craniosynostosis relies on physical examination and radiographic studies, including plain radiography and computed tomography (CT). […] The superior imaging quality of CT scans on cortical bones and the possibility of creating 3D reconstructions were one of the major limitations of wider applicability of MRI, but advancements in technologies are working hard to propose MRI as a no-radiation alternative in this field.

• #18 Craniosynostosis diagnosis [Neurosurgery Education Wiki]

  https://neurosurgery.education/wiki/doku.php?id=craniosynostosis_diagnosis

  Some cases of synostosis are really deformities caused by positional flattening (e.g. lazy lambdoid, see below). If this is suspected, instruct parents to keep head off of the flattened area and recheck patient in 68 weeks: if it was positional, it should be improved, if it was CSO then it usually declares itself. The diagnosis of CSO may be aided by: […] The diagnosis relies on physical examination and radiographic studies, including plain radiography and computed tomography (CT). […] Diagnostic imaging is necessary to confirm the fused suture and to assess the accompanying skull deformities, intracranial pathology and other complications. […] Cranial suture ultrasound is an effective and reliable technique for the diagnosis of craniosynostosis. It has many advantages: it is fast and non-irradiating, and no sedation is required. It should be used as first-line imaging in infants below the age of 8-12 months when craniosynostosis is clinically suspected. […] The majority of surgeons obtain preoperative head CTs, whereas only 25% obtain CTs postoperatively, often to evaluate outcomes. Because outcomes may be evaluated clinically, this is a poor use of resources and exposes children to radiation.

• #19 Craniosynostosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/craniosynostosis?lang=us

  Craniosynostosis (plural: craniosynostoses) refers to the premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early. […] Treatment is often with a cranioplasty. Abnormal intracranial pressure may affect neurocognition. […] Low-dose CT with 3D image reformations is the best modality for the evaluation of skull sutures. […] Ultrasound can be used as a screening tool or in clinically-subtle cases and can reduce radiation exposure in infants to cases with inconclusive findings. General features include: sutures are normally hypoechoic, there may be a loss of normally decreased echogenicity in the region of the fusion, lack of suture patency, and ridging of the sutures.

• #20 Craniosynostosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html

  Skull deformity in infants continues to be a diagnostic and therapeutic challenge. The diagnosis of craniosynostosis relies on physical examination, plain radiography, and computed tomography. […] Commonly, craniosynostosis is present at birth, but it is not always diagnosed when mild. Usually it is diagnosed as a cranial deformity in the first few months of life. The diagnosis relies on physical examination and radiographic studies, including plain radiography and computed tomography (CT). […] It is important to differentiate lambdoid synostosis from deformational plagiocephaly. The diagnosis of deformational plagiocephaly can be made clinically by viewing the infants head from the top (vertex view). […] The diagnosis of deformational plagiocephaly is made when the infant has a typically round head at birth but, a few weeks or months later, the parents notice deformation of head shape. A thorough physical examination by the primary care physician is necessary. […] Plain radiography is the first step in the evaluation of suspected craniosynostosis and is sufficient for diagnosing single-suture craniosynostosis. […] The diagnostic value of the CT scan outweighs that of plain radiography because the sutures can be identified more accurately on a CT scan.

• #21 Craniosynostosis: Diagnosis and Surgical Management | Pocket Dentistry

  https://pocketdentistry.com/craniosynostosis-diagnosis-and-surgical-management/

  Craniosynostosis is primarily diagnosed by careful clinical examination but must be confirmed radiographically. […] Following clinical evaluation by a craniofacial team, a complete skull series of plain radiographs is obtained to evaluate the cranial vault sutures (usually not needed for the simple suture synostosis). […] For cases in which all the sutures cannot be adequately visualized using plain films, additional imaging using computed tomography (CT) is indicated. […] Although technological advancements have dramatically increased the accuracy of standard radiographic studies and CT imaging, incorrect and outdated terminology is still occasionally used in describing cranial vault sutures. […] Therefore, a patent suture on a diagnostic-quality radiographic study negates the diagnosis of craniosynostosis.

• #22 Navigating your child’s diagnosis of Craniosynostosis

  https://www.cappskids.org/can-an-plain-skull-xray-show-skull-sutures/

  Patients in whom craniosynostosis is suggested should undergo a careful clinical examination, with the clinician looking for abnormalities of the skull and extremities. […] Plain radiography quickly and simply identifies skull-shape abnormalities, which are seen in most patients with craniosynostosis. […] Cranial sutures “may” be surveyed for patency. […] This step may be able to identify a synostosis but is also not a reliable tool in ruling out a synostosis. […] Xray is a useful tool along with consultation of a Craniofacial surgeon to MAKE a diagnosis BUT is not a reliable tool for ruling out Craniosynostosis. […] Diagnosing craniosynostosis can be challenging, even for experienced pediatricians. […] Since craniosynostosis leads to predictable and characteristic patterns of abnormal skull growth, the diagnosis is best made after a physical exam by an experienced craniofacial surgeon.

• #23 How Do I Know if My Child Has Craniosynostosis? | University of Utah Health

  https://healthcare.utah.edu/the-scope/health-library/all/2021/11/how-do-i-know-if-my-child-has-craniosynostosis

  But once we decide it is and we talk about surgery, then we would want to get a CT scan, generally speaking, to be definitive about the diagnosis. […] A CT scan gives much more detail of not only the bones, but, as I said, also the brain as well. […] The X-ray is very unreliable in making the diagnosis. […] So if we see a baby with, let’s say, sagittal synostosis that comes in at 2 to 3 weeks of age, then we’ve seen that the optimal time for surgery would be somewhere around 3 months of age. […] The natural history is that the shape will stay the same or get progressively worse because everything is growing except the fused suture. […] The two indications are the shape and the risk of pressure on the brain. […] It’s really a visual inspection of the head shape that tells you the diagnosis 90-plus percent of the time. […] For sure. And we can make plans based on photos, and we can see them in the clinic and talk about it, and then targeting between 2 and 3 months for corrective surgery.

• #24 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/skeleton/craniosynostosis

  Craniosynostosis […] Ultrasound diagnosis: […] Premature fusion of cranial sutures resulting in abnormal shapes of the cranium. […] Investigations: […] Detailed ultrasound examination. Special attention should be paid to fetal hands, midface, heart and central nervous system. […] Fetal MRI provides useful information. […] Detailed family history and consultation with geneticist: if the family history is negative for isolated craniosynostoses, prenatal karyotyping to rule out chromosomal abnormalities is recommended. […] Craniosynostosis is caused by mutations in the FGFR-2, FGFR-3, TWIST, and EFNB-1 genes. […] Follow up: […] Follow-up should be standard. […] Delivery: […] Standard obstetric care and delivery in tertiary center, […] Prognosis: […] Newborns might have difficulties with breathing, feeding and vision.

• #24 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/skeleton/craniosynostosis

  Increased intracranial pressure, which is present in one third of the newborns, might affect intelligence and neurodevelopment. Optimal timing for surgical repair should be planned. […] Recurrence: […] De novo mutations: no increased risk of recurrence. […] Syndromic forms with positive family history: 25% and 50% risk of recurrence depending on the associated syndrome.

• #25 Craniosynostosis Syndromes – EyeWiki

  https://eyewiki.org/Craniosynostosis_Syndromes

  Craniosynostosis is defined as a premature fusion of one or more cranial sutures during intrauterine or postnatal development. […] If untreated, it may not only result in abnormal skull shape but may also result in neurologic, visual and respiratory complications. […] Craniosynostosis syndromes often occur spontaneously due to a de novo autosomal dominant mutation or they may be inherited by either an autosomal dominant or autosomal recessive manner. […] Many of the craniosynostosis syndromes are caused by mutations in the FGFR1, FGFR2, and FGFR3, TWIST1 and EFNB1 genes. […] Craniosynostosis syndromes can be detected as early as in the prenatal period during ultrasound imaging, which may prompt the consideration of molecular genetic testing. […] There is no uniform treatment that encompasses all the potential manifestations of the craniosynostosis syndromes; treatment methods are multifaceted and dependent on factors such as the age, time of diagnosis, suture(s) involved, severity of the condition, and whether or not other systemic clinical features are present.

• #26 Craniosynostosis | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/craniosynostosis/

  A geneticist at Children’s Colorado can help your family understand the cause and future risks related to a craniosynostosis diagnosis. […] At Children’s Colorado, your child’s initial visit to the Craniofacial Program includes an evaluation of their medical history and a physical evaluation. […] Our specialists may need additional tests to confirm the diagnosis and aid in treatment planning. Additional tests may include: Computed tomography (CT scan) allows doctors to see detailed views of the sutures of the skull. […] Genetic testing allows specialists to check for related syndromes. […] Our specialists collect all the information from your child’s medical history, physical exam and any imaging we perform. Together, doctors and surgeons on our multidisciplinary team work together to give your family an accurate diagnosis and formulate the most effective treatment plan developed around your child’s unique condition.

• #27 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  Craniosynostosis should ideally be managed in a multidisciplinary setting. Full workup should also include baseline psychological, speech/language, hearing and orthoptic assessments. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both). […] Genetic workup should be an integral part of the management of craniosynostosis as it contributes both to risk assessment for the family and prognostic information for the patient.

• #28 Craniosynostosis – UChicago Medicine

  https://www.uchicagomedicine.org/comer/conditions-services/craniofacial-anomalies/craniosynostosis

  Craniosynostosis is usually diagnosed by a specialist who is experienced in examining a childs head shape, such as a pediatric neurosurgeon or pediatric plastic surgeon. Special X-ray tests such as computerized tomography (CT) scans can be used to confirm the diagnosis by revealing the fused suture. […] Proper diagnosis is important because craniosynostosis should not be confused with plagiocephaly, a term that refers to a crooked head shape without a fused suture. This distinction is critical because craniosynostosis is usually treated with surgery, while plagiocephaly is treated with nonsurgical therapy. […] Our Craniofacial Anomalies Multidisciplinary Program (CAMP), one of the largest in the region, provides a thorough, team-based approach for the evaluation, diagnosis and treatment of children with craniosynostosis.

• #29 Craniosynostosis | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/craniosynostosis

  Craniosynostosis Diagnosis […] There may be reasons other than synostosis that your child’s head is misshapen, so your child’s doctor may order X-rays or a CT scan to screen for this condition. The doctor may refer your child to a neurosurgeon or plastic surgeon to obtain an opinion regarding the problem. […] […] Craniosynostosis can happen on its own without other related abnormalities (non-syndromic). It may stem from an underlying genetic condition (syndromic). The type of craniosynostosis a child has depends on which skull sutures fuse. The child’s head shape looks different based on which sutures fuse.

• #30 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1175957-overview

  Incidence of craniosynostosis is 0.040.1% or 1 in every 2500 babies. […] Raised intracranial pressure is rare with fusion of a single suture. It can occur in primary craniosynostosis when multiple sutures fuse. […] Patients with primary craniosynostosis must be monitored after surgery. The vast majority of patients with primary, single suture synostosis have little or no morbidity following surgery. […] In secondary craniosynostosis, prognosis is dependent upon underlying etiology.

• #31 Craniosynostosis Diagnosis and Treatment | OHSU

  https://www.ohsu.edu/doernbecher/craniosynostosis-diagnosis-and-treatment

  Early diagnosis and treatment of craniosynostosis is vital to help your child meet developmental milestones. The most common treatment is surgery to modify the shape of the head and allow for brain growth. […] If your child’s provider suspects craniosynostosis, they may refer you to OHSU. Our experts use screening tests to look for signs of this condition. A screening may include: […] If your child is diagnosed with craniosynostosis in the first few weeks of life, OHSU offers several surgery options to reshape the skull. […] In most cases, children with craniosynostosis do not need follow-up surgery. After your child’s surgery you will meet with your child’s brain surgeon, plastic surgeon, and pediatric nurse practitioner for follow-up care. Our team will also conduct tests to check how your child’s brain functions. […] OHSU’s complete care for craniofacial disorders includes emotional support for your family.

• #32 Antenatal Diagnosis of Craniosynostosis | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-031-69386-1_20

  Prenatal diagnosis of craniosynostosis remains challenging in isolated single-suture forms. Abnormal skull shape, abnormal cephalic index, the brain shadowing sign, and ventriculomegaly are the main key features for detecting fetal craniosynostosis in 2D-US. Once craniosynostosis is suspected, patients should be referred to a fetal medicine unit in order to perform a second-level scan by an expert in fetal neurosonography to confirm the diagnosis and to assess the associated malformations. A 3D-US may be an optional additional tool to improve the exploration of the skull sutures and to help future parents visualize the malformation. MRI, as a complementary imaging modality, allows detection and better assessment of central nervous system malformations which may be associated with craniosynostosis. Distinguishing between isolated and syndromic craniosynostosis is crucial during the prenatal period for appropriate counseling and scrutinizing for fetal limbs and facial anomalies is useful. Once the diagnosis of craniosynostosis is made, fetal chromosomal microarray and molecular analysis should be recommended.

• #33 Craniosynostosis (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/craniosynostosis.html

  Craniosynostosis is when one or more seams between bones in a child’s skull close too soon. When this happens, the skull can’t grow properly, and develops a different shape. […] Sometimes, doctors see craniosynostosis on ultrasound scans before a baby is born. Other times, they find the condition when a baby is born or a few weeks later. […] If doctors think a baby might have craniosynostosis, they may order tests, such as X-rays or a computed tomography (CT) scan. Then, they’ll work with a neurosurgery team or a craniofacial team to confirm the diagnosis.

• #34 Combining deep learning with 3D stereophotogrammetry for craniosynostosis diagnosis | Scientific Reports

  https://www.nature.com/articles/s41598-020-72143-y

  Craniosynostosis is a condition in which cranial sutures fuse prematurely, causing problems in normal brain and skull growth in infants. To limit the extent of cosmetic and functional problems, swift diagnosis is needed. The goal of this study is to investigate if a deep learning algorithm is capable of correctly classifying the head shape of infants as either healthy controls, or as one of the following three craniosynostosis subtypes; scaphocephaly, trigonocephaly or anterior plagiocephaly. […] Currently, computed tomography (CT) is the primary image technique used in craniosynostosis diagnosis. CT is proven to be an accurate diagnostic tool in craniosynostosis, but exposes the infant to ionizing radiation, which can pose a health risk for radiation induced cancer. Therefore a safer alternative diagnostic tool is needed.

• #35 Combining deep learning with 3D stereophotogrammetry for craniosynostosis diagnosis | Scientific Reports

  https://www.nature.com/articles/s41598-020-72143-y

  In this study, we demonstrate that 3D stereophotogrammetry combined with deep learning can provide a basis to accurately classify cranial shapes of healthy controls, scaphocephaly patients, trigonocephaly patients and anterior plagiocephaly patients. […] This study shows that trained deep learning algorithms, based on 3D stereophotographs, can discriminate between craniosynostosis subtypes and healthy controls with high accuracy.

• #36 Craniosynostosis: Anatomy, Classification, & Investigations

  https://www.theplasticsfella.com/craniosynostosis/

  Craniosynostosis management focuses on the correction of shapes, treating complications, and maintaining functional status. […] The treatment of craniosynostosis is centred on a multidisciplinary team involving a plastic surgeon, ENT, orthodontist, speech therapist, child psychologist, and nurses. […] The goals of treatment should be to: To correct abnormal head shape/skull deformity. Treat or prevent raised intracranial pressure. Expand the intracranial volume. Protect the airway and cornea.

• #37 Craniosynostosis Research – Seattle Children’s

  https://www.seattlechildrens.org/clinics/craniofacial/research-and-clinical-trials/craniosynostosis/

  Dr. Craig Birgfeld is studying how to improve diagnosis of patients with metopic craniosynostosis (MCS). […] Dr. Birgfelds team has identified facial features and findings on CT (computed tomography) scans that accurately diagnose MCS. […] To guide doctors in making a diagnosis, the team created a tool with pictures. It is called the Phenotypic Assessment Tool for Metopic Craniosynostosis (PAT-MCS).

• #38 Craniosynostosis | Neurosurgery | Connecticut Children’s

  https://www.connecticutchildrens.org/specialties-conditions/neurosurgery/conditions-treatments/craniosynostosis

  Craniosynostosis is a condition whereby one or more of the bony plates in a childs skull fuse prematurely and impair normal cranial growth. This condition occurs in roughly one in 2,000 children, and is typically identified within the first few months of life. […] Often, the diagnosis of craniosynostosis can be made during an initial evaluation with a craniofacial specialist. An expert craniofacial surgeon can diagnose most forms of craniosynostosis based on the appearance of the childs cranial deformity, as each type of craniosynostosis produces stereotypical changes in the shape of the skull. For more complicated cases or for syndromic patients, more detailed radiographic studies may be useful for both diagnostic and surgical planning purposes. […] We use a number of methods to diagnose cranial deformities, including our highly experienced craniofacial surgeons, in-office cranial measurements and same-day ultrasounds. In most cases, an accurate diagnosis can be made in one visit and without the need to expose patients to radiation or sedate them for lengthy radiographic studies.

• #39 Syndromic Craniosynostosis Treatment | UPMC Children’s Pittsburgh

  https://www.chp.edu/our-services/plastic-surgery/conditions/craniosynostosis/syndromic-craniosynostosis

  Syndromic craniosynostosis is a rare group of conditions that occur when the bones of a baby’s skull fuse too early. […] Syndromic craniosynostosis is genetic. Doctors use another term, non-syndromic or isolated craniosynostosis, when the skull bones fuse early for other, often unknown, reasons. […] In children with syndromic forms of craniosynostosis, fusion is more often found in several locations in the skull. This can cause a higher risk of complications compared to isolated craniosynostosis. […] The signs of syndromic craniosynostosis are usually noticeable at birth and will become more pronounced as your baby grows. Most noticeably, the head and face may look misshapen. What shape and how severe it is depends on how many sutures (places where the bones fuse) have closed early. […] During well-child visits, your doctor will measure the growth of your baby’s head. Talk to your pediatrician if you have concerns about the shape or size of your child’s head. […] Syndromic craniosynostosis treatment should begin as soon as possible. With early diagnosis and treatment, your child has the best chance of achieving normal brain development and good cosmetic results.

• #40 Craniosynostosis

  https://www.nhs.uk/conditions/craniosynostosis/

  Craniosynostosis is a rare condition where a baby’s skull does not grow properly and their head becomes an unusual shape. It’s usually treated with surgery. […] If they think your child could have craniosynostosis, they may refer them to a specialist centre for more tests, like X-rays or scans. […] These tests should help determine what type of craniosynostosis your child has, and what type of treatment they’ll need as they grow older. […] Treatment usually involves surgery. The type of treatment will depend on: the type of craniosynostosis your baby has, their symptoms, their age. […] Some cases of craniosynostosis may just be monitored and not need treatment. […] If your child has certain types of craniosynostosis, surgery cannot always fully correct the shape of their head and they may need ongoing care. […] Certain types of craniosynostosis can lead to long-term conditions like learning difficulties, hearing loss and problems with sight, such as having a lazy eye.

• #41 Craniosynostosis Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/craniosynostosis

  Craniosynostosis is a condition that occurs in infancy, in which the sutures between the bones of the skull close before the skull has had a chance to complete its growth. This premature hardening may interfere with the formation of the bones of the skull and face. At Columbia, our pediatric neurosurgeons are experts in diagnosing and taking care of children who have craniosynostosis. […] The diagnosis is made after a thorough physical examination. Diagnostic testing is occasionally needed in unusual cases. […] Craniosynostosis may be observable at birth (though it is important to note that a newborns skull is often temporarily molded by its passage through the birth canal). Craniosynostosis may be observed during a physical examination later in infancy. […] Diagnostic tests that may be performed to confirm the diagnosis of craniosynostosis include X-rays and CT scans. X-rays use invisible electromagnetic energy beams to produce images of internal tissues and bones. CT scans (also known as CAT scans, or computed tomography scans) use a combination of X-rays and a computer to produce horizontal, or axial, images (often called slices). Three dimensional reconstructions are often made from CT scans to show the bone plates and sutures. A CT scan shows detailed images of any part of the body, including bones, muscles and organs. CT scans are more detailed than X-rays.

• #42 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management. […] The aims of clinical assessment are to determine: (1) whether craniosynostosis is present; (2) whether there are additional features suggesting an associated syndrome and (3) to assess whether urgent or elective management is required. Craniosynostosis is very heterogeneous in its causes and presentation, and correspondingly in its management. […] Computed tomography (CT) scanning and three dimensional reconstruction using both bone and soft tissue windows is the investigation of choice. This should clearly reveal the patency, or closure, of each individual suture.

• #43 Syndromic Craniosynostosis Diagnosis [Neurosurgery Education Wiki]

  https://neurosurgery.education/wiki/doku.php?id=syndromic_craniosynostosis_diagnosis

  Diagnosing syndromic craniosynostosis is a multidisciplinary process that integrates clinical assessment, radiological findings, and genetic testing. Early and accurate diagnosis is crucial for guiding management and anticipating complications. […] A detailed clinical history and physical examination are the foundation of diagnosis. Key clinical features include: […] Imaging plays a central role in confirming suture fusion and identifying associated malformations: […] Molecular confirmation is essential to distinguish between syndromic and non-syndromic forms: […] Diagnosis and follow-up should involve:

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