Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies.
An infant was found to have the previously known manifestations of the Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, and congenital heart disease) but also imperforate anus, malrotation of gut, congenital hip dislocation, and urogenital sinus. All of these anomalies have been separately reported in other cases of the syndrome. Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglucocorticism and the hypoglucocorticism secondary to the pituitary dysplasia.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007003:Hypoglycemia / Q000151:congenital; D007018:Hypopituitarism / Q000151:congenital; D007231:Infant, Newborn; D008297:Male; D010902:Pituitary Gland / Q000473:pathology; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014621:Vagina / Q000002:abnormalities