Visceral manifestations of hypochondrogenesis

Abstract

Autopsy of a stillborn neonate with hypochondrogenesis revealed severe cardiac abnormalities and extensive diverticulosis of the proximal region of the small intestine. Visceral ramifications are unusual in hypochondrogenesis; they may reflect heterogeneity of the intramolecular defect in the COL2A1 gene that codes for the achondrogenesis type II-hypochondrogenesis spectrum of disorders.