Three different manifestations of congenital muscular aplasia in a family.
This report concerns three different manifestations of congenital muscular aplasia/hypoplasia in a mother (aplasia of the left tensor fasciae latae muscle) and her two children (aplasia of the left depressor anguli oris muscle, right hemidiaphragm hypoplasia), indicating autosomal dominant inheritance with variable expression (pleiotropy) as aetiology for the conditions.
D002081:Buttocks; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics*; D003964:Diaphragm / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics; D009132:Muscles / Q000002:abnormalities*