Literature DB >> 2363419

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

P Lorenz1, E Rupprecht, H Tellkamp.   

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.

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Year:  1990        PMID： 2363419     DOI： 10.1002/ajmg.1320360302

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Authors:  O Bartsch; W Wuyts; W Van Hul; J T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; G K Hinkel; C M Powell; L G Shaffer; P J Willems
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

2.  Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.

Authors:  C Palka; M Alfonsi; A Mohn; P Guanciali Franchi; F Chiarelli; G Calabrese
Journal:  Mol Syndromol       Date:  2012-04-27
  2 in total

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