Familial occurrence of renal and Müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay.
Absence of the kidneys and of the Müllerian structures has been reported in many patients. We report on a brother and sister, born to nonconsanguineous parents, with renal hypoplasia, Müllerian duct hypoplasia, and strikingly similar facial abnormalities. Both sibs have severe growth and developmental retardation. We think that the unique clinical findings in these sibs represent a new syndrome. The embryological and genetic implications of this condition are discussed.
D000015:Abnormalities, Multiple; D002648:Child; D002658:Developmental Disabilities; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome