Craniofrontonasal dysplasia syndrome: A rare case

Abstract

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.

Keywords

• Craniofrontonasal dysplasia
• craniofrontonasal dysplasia syndrome
• newborn