ABSTRACT
Campomelic dysplasia is a skeletal dysplasia characterized by flat face, Pierre Robin sequence, shortening and bowing of long bones and club feet. The authors describe a case of "acampomelic" campomelic dysplasia that differs from classical campomelic dysplasia by the absence of bone bowing. This condition is among the most common skeletal dysplasias but is often misdiagnosed in the absence of overt campomelia.
Subject(s)
Campomelic Dysplasia/genetics , Mutation, Missense , SOX9 Transcription Factor/genetics , Humans , Infant, Newborn , MaleABSTRACT
Chikungunya virus (CHIKV) infection manifesting in neonates is very rare. The prevalence of the entity was described only recently. We describe a neonate with chikungunya who presented with severe thrombocytopenia and features of multisytem involvement. Identification of this entity based on clinical and epidemiological background helps in appropriate management and aids in prognostication of the affected neonate.
