CASE REPORT OF CROUZON SYNDROME
Abstract
Crouzon syndrome is an autosomal dominant genetic disorder characterized by craniofacialsynostosis. It is caused by genetic mutation in fibroblast growth factor receptor 2 and 3, located on chromosome 10q25-26. Considering the general paucity of cases in our Indian literature, we present this case report of a 50 year old female with features of Crouzon syndrome.
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L. E. O. Crouzon. Dysostose cranio-faciale héréditaire. Bulletin de la Société des Médecins des Hôpitaux de Paris, 1912, 33: 545-555.
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (September 1994). "Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome". Nat. Genet. 8 (1): 98–103.
Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW (December 1995). "Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans". Nat. Genet. 11 (4): 462–4.
James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
Vajo Z, Francomano CA, Wilkin DJ. (February 2000). "The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and
Crouzon syndrome with acanthosis nigricans". Endocrine Reviews 21 (1): 23–39.
Robin, NH; Falk, MJ; Haldeman-Englert, CR; Pagon, RA; Adam, MP; Ardinger, HH; Bird, TD; Dolan, CR; Fong, CT; Smith, RJH; Stephens, K (1993). "FGFR-Related Craniosynostosis Syndromes".
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