Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features

Clinical Features

In a male and female sib pair of Sikh origin and a male offspring of first-cousin Pakistani Muslims, Al-Gazali et al. (1988) described a combination of Hirschsprung disease (megacolon), hypoplastic nails, and minor dysmorphic facial features. In 1 male infant, bilateral hydronephrosis was detected on routine ultrasound in midtrimester, and imperforate anus was noted at birth. Vesicostomy was performed for an obstructed bladder thought to be the result of posterior urethral valves. A left inguinal hernia was repaired during surgery for Hirschsprung disease. All 3 patients died as infants.