Visceral manifestations of hypochondrogenesis.
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.
Wainwright
Helen
H
Division of Anatomical Pathology, Faculty of Health Sciences, University of Cape Town, Observatory 7925, Cape Town, South Africa. Helen.Wainwright@uct.ac.za
Beighton
Peter
P
D001344:Autopsy; D024043:Collagen Type II; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007421:Intestine, Small / Q000002:abnormalities*; D010009:Osteochondrodysplasias / Q000473:pathology*; D050497:Stillbirth
C499177:COL2A1 protein, human; D024043:Collagen Type II