36 results
Article
Craniosynostosis
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.
Epidemiology
There is a 3:1 male predominance with an overall incidence of 1 in 2000-2500. 8% of c...
Article
Cloverleaf skull (craniosynostosis)
Cloverleaf skull, also known as kleeblattschädel syndrome or deformity, refers to a type of severe craniosynostosis that gives the skull a cloverleaf shape. It is very rare, with less than 130 case reports globally. It typically results from intrauterine premature closure of the sagittal, corona...
Article
Mercedes Benz craniosynostosis syndrome
Mercedes Benz pattern craniosynostosis also known as pure bilateral lambdoid and sagittal synostosis (BLSS) is a pattern of craniosynostosis 1,2.
Epidemiology
The estimated incidence is at around 0.3 - 0.7 % 3.
Clinical presentation
Cognitive function is grossly normal. Dolichocephalic hea...
Article
Progressive postnatal pansynostosis
Progressive postnatal pansynostosis (PPP) is a rare form of craniosynostosis characterized by the late fusion of all cranial sutures.
Epidemiology
This type of craniosynostosis occurs insidiously after birth and presents later in life unlike other types of craniosynostosis which occur during t...
Article
Synostosis
The term synostosis (plural: synostoses) refers to the fusion of bones usually at cartilaginous or fibro-osseous connections. Synostoses occur physiologically, as asymptomatic anatomical variants or might be abnormal and cause clinical symptoms as a functional loss. The latter is clinically sign...
Article
Apert syndrome
Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.
Epidemiology
The estimated incidence is 1 case per 65-80,000 pregnancies.
Risk factors
increased paternal age has been proposed 6
Associations
CNS ...
Article
Metopic ridge
A metopic ridge refers to a variation in skull shape, characterized by a midline forehead ridge, which may occur either due to the physiological closure of the metopic suture or as a result of craniosynostosis of this suture 1-3. It is essential to differentiate between the two conditions becaus...
Article
Brachycephaly
Brachycephaly refers to a calvarial shape where the bi-parietal diameter to fronto-occipital diameter approaches the 95th percentile. It can result from a craniosynostosis involving the coronal and lambdoid sutures.
Pathology
Associations
Brachycephaly can be associated with numerous syndrome...
Article
Scaphocephaly
Scaphocephaly (also known as dolichocephaly) is the most common form of craniosynostosis, where premature closure of the sagittal suture results in an impediment to the lateral growth of the skull while anteroposterior growth continues, producing a classic elongated, yet narrow, skull.
Epidemi...
Article
Copper beaten skull
Copper beaten skull, also known as beaten silver skull or beaten brass skull, refers to the prominence of convolutional markings (gyral impressions on the inner table of the skull) seen throughout the skull vault.
Clinical presentation
There are no clinical features specific and unique to a co...
Article
Bathrocephaly
Bathrocephaly, also known as bathrocephalic occiputs, is a normal variation in skull shape, caused by an outward convex bulge of mid-portion of the occipital bone, often associated with a modification of the mendosal suture.
Epidemiology
The true incidence of this disorder is unknown 1.
Rarel...
Article
Occipital plagiocephaly
Occipital plagiocephaly is a type of plagiocephaly. It is used to describe the shape of the skull which is a result of an early fusion of the lambdoid suture. The premature fusion may occur either on one side or both sides of the suture.
Epidemiology
It is one of the rarest craniosynostosis, a...
Article
Trigonocephaly
Trigonocephaly refers to the triangular appearance of the frontal skull created by premature fusion of the metopic suture (metopic craniosynostosis) 2. Trigonocephaly accounts for around 5% of all craniosynostosis cases 4.
Epidemiology
Associations
Jacobsen syndrome
Pathology
The metopic su...
Article
Slit ventricle syndrome
Slit ventricle syndrome, sometimes known as symptomatic ventricular coaptation, refers to a constellation of symptoms associated with abnormally small ventricles. Although it is most commonly seen in the setting of CSF diversion, it is not synonymous with CSF overdrainage.
Terminology
It is im...
Article
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities.
Epidemiology
It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals.
Males and females are equally affected.
Clinical presentation
The spe...
Article
Pfeiffer syndrome
Pfeiffer syndrome (also known as type V acrocephalosyndactyly) is characterized by skull and limb abnormalities.
Epidemiology
It affects about 1 in 100,000 births
Clinical presentation
craniosynostosis
hypertelorism
proptosis
maxillary hypoplasia
brachydactyly
syndactyly
Pathology
Pfe...
Article
Antley-Bixler syndrome
Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common.
Epidemiology
It is a very rare condition with only 50 cas...
Article
CT head (protocol)
CT head, also known as CT brain, refers to a computed tomography (CT) examination of the brain and surrounding cranial structures. It is most commonly performed as a non-contrast study, but the addition of a contrast-enhanced phase is performed for some indications.
This article covers non-cont...
Article
Multiple synostoses syndrome
Multiple synostoses syndrome (SYNS), proximal symphalangism (SYM), tarsal-carpal coalition (TCC) syndrome, stapes ankylosis with broad thumbs and toes (SABTT), and brachydactyly B2 (BDB2) are overlapping autosomal dominant conditions united by typically displaying ankylosis of the proximal inter...
Article
Cephalohematoma
Cephalohematomas are traumatic subperiosteal hematomas of the skull that are usually caused by birth injury. They are bound between the periosteum and cranium, and therefore cannot cross sutures. Being bound by a suture line distinguishes them from subgaleal hematoma, which can cross sutures.
E...
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