Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus. The patient"s bone age was only 4. 5-5 years according to the Greulich and Pyle atlas.
Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus. MRI revealed obstructive hydrocephalus of both lateral ventricles, shallow orbits, and cerebellar tonsil herniation (Chiari I malformation). Pituitary height was 5.6 mm in midsagittal T1-weighted spin-echo MRI.
FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome. Crouzon syndrome patients and morphology measurement of orbit. a Five-generation Crouzon syndrome pedigree. Affected individuals are indicated by filled symbols, the proband is marked with an upward arrow. b Facial photographs of the Crouzon syndrome patients. c Morphology measurement of orbit. (Ca) Three-dimensional reconstruction of skull of the proband IV-2 (Cb) Morphology measurement of orbit(a. midinterorbital distance, b.lateral orbital wall angle) (Cc) Morphology measurement of orbit(a. roof length, b. medial wall length, c. floor length, d. lateral wall length, e. orbital width, f. orbital height)
FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report. Patients with Crouzon syndrome and clinical examination of the proband. a Three-generational Crouzon syndrome pedigree. Affected individuals are indicated by filled symbols and the proband is marked with an arrow. b, c Computed tomography and magnetic resonance imaging did not reveal retrobulbar hematoma and revealed shallow orbits and obvious ocular proptosis in the proband. d Facial photographs of patients with Crouzon syndrome
syndrome • Crouzon syndrome - Ganzer Fall bei Radiopaedia
Crouzon syndrome is rare disorder characterized by premature craniosynostoses.
- abnormal calvarial shape: in severe case can give a "cloverleaf skull"
- shallow orbits with exophthalmos
- mid facial hypoplasia
- bifid uvula
It carries an autosomal dominant inheritance due to a mutation in fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10q25-26.
- Chiari I malformations : may be present in ~70% of cases
- 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 .
- Chiari-Malformation Typ 1
- mid facial hypoplasia
- Ausdünnung der Kalotte
- congenital syndromes associated with enlarged ventricles
- orbital hypertelorism
- classification of paediatric midface anomalies
- fibroblast growth factor receptor gene mutations
- craniofacial syndromes in children
- Impressiones digitatae
- Luxation des Bulbus oculi
- Aplasie der Nasennebenhöhlen