Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung's disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.
No takes yet. Share an insight, caveat, or question.
al-Gazali et al. (1988) studied this question.
Synapse has enriched 5 related papers. Consider them for comparative context: