Brachytelephalangic Type Chondrodysplasia Punctata - An Under Diagnosed Entity

Abstract

Brachytelephalangic type chondrodysplasia punctata is a rareX linked recessive type of congenital disorder affecting cartilage and bone development with typical findings of binder phenotype, stippled epiphysis and short distal phalanges in male child.1
This occurs due to loss of arylsulfatase E (ARSE) activity. Hypoplastic midface is an important prenatal clue for the diagnosis of chondrodysplasia punctata. Genetic confirmation can be done by detection of deletion of ARSE gene. Even though prevalence of this condition is stated as 1 in 500000, only 55 patients with genetically confirmed disease has been reported so far.2 According to latest literature, genetically confirmed cases were not reported from India so far.
We report the case of a newborn baby in our hospital, resident of South Kerala, with typical clinical findings of brachytelephalangic type of chondrodysplasia punctata and genetically confirmed later.