Literature DB >> 1404303

Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.

J P Fryns1, J Delooz, H Van Den Berghe.   

Abstract

A 4 year old girl is described with severe mental retardation, peculiar face with nasal hypoplasia, sparse hair, genital hypoplasia, truncal obesity, puffy hands, and small feet with complete cutaneous syndactyly of the second and third toes.

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Mesh:

Year:  1992        PMID: 1404303      PMCID: PMC1016106          DOI: 10.1136/jmg.29.9.676

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  3 in total

1.  Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.

Authors:  T I Farag; A S Teebi
Journal:  Clin Genet       Date:  1988-02       Impact factor: 4.438

2.  Intrafamilial variation in Cohen syndrome.

Authors:  I D Young; J R Moore
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

3.  [Initial experience with use of fibrin glue in the treatment of acute gastroduodenal hemorrhage].

Authors:  K Med; A Kosinková; K Havlícek
Journal:  Rozhl Chir       Date:  1992-12
  3 in total

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