Literature DB >> 7717421

Skeletal manifestations in Fryns syndrome.

M Tsukahara1, M Sase, H Tateishi, T Saito, H Kato, S Furukawa.   

Abstract

We report on a female baby with Fryns syndrome who died soon after birth. The patient had short limbs, coarse face, hypoplastic lungs, diaphragmatic hernia, and acral hypoplasia. Literature review disclosed varying degrees of skeletal manifestations in Fryns syndrome; short limbs may be a component of Fryns syndrome.

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Year:  1995        PMID: 7717421     DOI: 10.1002/ajmg.1320550213

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


  1 in total

1.  Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Authors:  S Kantarci; D Casavant; C Lee; V Kimonis; B R Pober; C Prada; M Russell; J Byrne; L Wilkins Haug; R Jennings; S Manning; T K Boyd; J P Fryns; L B Holmes; P K Donahoe
Journal:  Am J Med Genet A       Date:  2006-01-01       Impact factor: 2.802

  1 in total

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