Crouzon-Syndrom
Crouzon syndrome is rare disorder characterized by premature craniosynostoses.
Pathology
Features include:
- abnormal calvarial shape: in severe case can give a "cloverleaf skull"
- shallow orbits with exophthalmos
- mid facial hypoplasia
- bifid uvula
Genetics
It carries an autosomal dominant inheritance due to a mutation in fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10q25-26.
Associations
- Chiari I malformations : may be present in ~70% of cases
- hydrocephalus
- stylohyoid ligament calcification: may be present in ~50% of patients over 4 years old
- cervical spine abnormalities
- cervical spine fusion
- elbow malformations
- hand deformities
- agenesis of corpus callosum
History and etymology
It is named after L E Octave Crouzon, French physician who first described the condition in 1912 .
See also
Siehe auch:
- Chiari-Malformation Typ 1
- Hydrocephalus
- Kraniosynostose
- Kleeblattschädel
- acrocephalosyndactyly
- mid facial hypoplasia
- Mittelgesichtshypoplasie
und weiter:
- Hypertelorismus
- Ausdünnung der Kalotte
- Syndaktylie
- Apert-Syndrom
- congenital syndromes associated with enlarged ventricles
- orbital hypertelorism
- Gehörgangsatresie
- Impressiones digitatae
- classification of paediatric midface anomalies
- Ellbogenaplasie
- fibroblast growth factor receptor gene mutations
- craniofacial syndromes in children
- Luxation des Bulbus oculi
- Aplasie der Nasennebenhöhlen
