An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.
Here we report on a 2 year 3-month-old boy with acrocephalosyndactyly, a bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation. To our knowledge there are no other reports of similarly affected patients in the literature.
Lorenz
P
P
Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.
Rupprecht
E
E
Tellkamp
H
H
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D004677:Encephalocele / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D010413:Penis / Q000002:abnormalities*; D011859:Radiography