Extensive congenital malformations in two siblings. Maternal pre-diabetes or a new syndrome?
Two sibs with similar and unusual abnormalities (skeletal malformations, cheilognatopalatoschizis, ear dysplasia, heart malformation) are described. The question as to whether these cases represent a previously undescribed recessive syndrome is discussed.
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000235:genetics; D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011236:Prediabetic State; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000150:complications*