Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome.
A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect. The parachute mitral valve was funnel-shaped with a moderately-thick cone of fibrous tissue around the annulus and an eccentric orifice. Many forms of congenital cardiac defects have been described in the 18 trisomy syndrome. However, parachute mitral valve has not, to our knowledge, been part of the spectrum of cardiac defects in trisomy 18. Other anomalies were absent radii, omphalocele, and cleft palate and cleft lip; these have been observed previously in the 18 trisomy syndrome.
D000015:Abnormalities, Multiple / Q000473:pathology; D001017:Aortic Coarctation / Q000209:etiology*; D001344:Autopsy; D002902:Chromosomes, Human, 16-18; D002971:Cleft Lip / Q000209:etiology; D002972:Cleft Palate / Q000209:etiology; D006345:Heart Septal Defects, Ventricular / Q000209:etiology; D006554:Hernia, Umbilical / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities*; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy