Familial occurrence of hereditary renal adysplasia with müllerian anomalies.
We report on a family with unilateral or bilateral renal agenesis and Müllerian anomalies (vaginal atresia or minor anomalies). This family provides support for an autosomal dominant pattern of inheritance with incomplete penetrance and variable expressivity in hereditary renal adysplasia (HRA) associated with Müllerian defects.
Battin
J
J
Service de Pédiatrie et Génétique Médicale, Hôpital d'Enfants-Pellegrin, Bordeaux, France.
Lacombe
D
D
Leng
J J
JJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D010375:Pedigree; D014621:Vagina / Q000002:abnormalities*