Authors
Dr A.C.Mammen, MD(Paediatrics), DAA(CMC Vellore), Fellowship in Neonatology (London, UK)a, Dr Binukuttan P.V, MD(Paediatrics)a, Dr Reni G Varghese, DCHa, Dr Salini Sasidharan, MD, Fellowship in Neonatology(IAP)a. aDepartment of Paediatrics and Neonatology, Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala.
Abstract
Background: Asphyxiating thoracic dystrophy or Juene syndrome is a rare condition of congenital dwarfism, with an incidence of 1 per 100000-130000 live births.
Case Presentation: We present the case of a term neonate born in our hospital who developed respiratory distress soon after birth.
Findings: Clinical examination revealed polydactyly on all four limbs and a small bell-shaped thorax. X-ray imaging showed small metacarpals, short ribs, short iliac bones, and acetabular spurs. Genetic mutation analysis identified a mutation in the IFT52 gene (Exon 6) with a pArg142Ter variant.
Conclusion: This case is reported due to the rarity of this specific IFT52 gene variant in literature.
Keywords: Juene Syndrome, pArg142Ter, Asphyxiating Thoraccic Dystrophy, Skeletal Anomalies