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Am J Med Genet. 1990 Jul;36(3):265-8.

An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.

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1
Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.

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.

PMID:
2363419
DOI:
10.1002/ajmg.1320360302
[Indexed for MEDLINE]
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