Crouzon syndrome
From WikiLectures
Synonyms: Vogt's syndrome, dysostosis craniofacialis hereditaria, dysostosis cranio-orbito-facialis
The syndrome is named after the French physician Louis Edouard Octave Crouzon[1]
Genetics:
- OMIM: 123500
- syndrome the syndrome is caused by a mutation in the gene for fibroblast growth factor receptor-2 (FGFR2; 10q26)
- Heredity: autosomal dominant
- There is also a rarer form of Crouzon syndrome with acanthosis nigrigancs (OMIM 612247), which is due to a specific missense mutation in the FGFR3 gene in the region of 4p16.3.
Characteristics:
- early closure of cranial sutures
- expanded acrocephalic skull
- eye anomaly: exophthalmos, atrophy n. opticus, blindness, hypertelorism, divergent strabismus, nystagmus
- hypoplasia maxilla
- progressive intracranial hypertension
Links[edit | edit source]
References[edit | edit source]
- ↑ OLE DANIEL, Enersen. Whonamedit - Apert-Crouzon syndrome [online]. [cit. 2011-04-24]. <http://www.whonamedit.com/synd.cfm/1383.html>.
References[edit | edit source]
- LAZOVSKIS, Ilmars – DOBIÁŠ, Václav. Overview of clinical symptoms and syndromes. 2. edition. Avicenum, zdravotnické nakladatelství, 1990. 0 pp. ISBN 80-201-0043-1.
