Open AccessCraniofrontonasal dysplasia syndrome: A rare case
Author(s) -
Biswajit Biswas,
Monojit Mondal,
Ajitesh Roy,
Rajib Das
Publication year - 2015
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/0975-2870.164955
Subject(s) - omim : online mendelian inheritance in man , mendelian inheritance , dysplasia , pediatrics , inheritance (genetic algorithm) , medicine , phenotype , dermatology , pathology , biology , genetics , gene
Craniofrontonasal dysplasia syndrome (CFND) (Online Mendelian Inheritance in Man database Number 304110), first described as a distinct entity by Professor Michael Cohen from Canada in 1979, is a very rare X-linked inherited disorder characterized by abnormalities of the head and face (cranio-facial area), hands and feet, and certain skeletal bones. Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males. We are presenting a newborn with this rare and peculiar syndrome, probably the first case from India to make physicians aware of this condition, so that more number of cases are being reported to help establishing an uniform clinical diagnostic criteria for CFND in the near future