title: An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.
authors.forename: P
authors.initials: P
authors.lastname: Lorenz
authors.forename: E
authors.initials: E
authors.lastname: Rupprecht
authors.forename: H
authors.initials: H
authors.lastname: Tellkamp
mesh_terms: 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