Holt-Oram syndrome: a rare case report

Abstract

Holt-Oram syndrome is an inherited disorder that causes abnormalities of the hands, arms and heart. The diagnosis can be established clinically. The diagnostic criteria have been validated with molecular testing. An upper-limb malformation involving the carpal bone(s) and, variably, the radial and/or thenar bones-An abnormal carpal bone, present in all affected individuals and identified by performing a posterior-anterior hand x-ray, may be the only evidence of disease. 24 years unbooked Hindu female G2P1+0 presented in OPD at term. Her USG examination showed-small deformed upper limbs with poorly appreciable upper limb skeleton. Induction of labour was done and patient delivered vaginally a female baby with deformed upper limbs. This case emphasizes the importance of proper history taking (family history), early diagnosis of such anomalies and proper counseling the parents.