Newborn with absent thumb and imperforate anus in absence of familial context- Is it Holt-Oram syndrome?

Abstract

The Holt-Oram syndrome is an autosomal dominant disease, characterized by variable expression with complete penetrance of both cardiac and skeletal abnormality which may also associated with other anomalies. The incidence of this syndrome is estimated at 0.1:10000 births. Females are more commonly affected. We report a male newborn suspected to be a case of Holt- Oram syndrome which is exceptional due to an absence of familial context.