Lip pits, cleft lip and/or palate, and congenital heart disease.
Three individuals in whom lip pits and cleft lip and/or cleft palate were found in association with congenital heart disease are described. These individuals did not have the characteristics of previously delineated syndromes in which lip pits occur, including Vanderwoude syndrome, popliteal pterygium syndrome, and orodigitofacial dysostosis. Literature review failed to show any previously reported cases in which pits were observed in association with congenital heart disease.
D002971:Cleft Lip / Q000150:complications*; D002972:Cleft Palate / Q000150:complications*; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities*; D008297:Male; D013577:Syndrome