Literature DB >> 1183069

Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.

R B Lowry, B J Wood.   

Abstract

This report describes two brothers with short stature, congenital nystagmus and microcephaly. The radiographic findings disclosed small, irregularly shaped epiphyses, square iliac bones and flattened acetabulae. The humeri and femora were short. The parents were normal. The syndrome is possibly X-linked, or autosomal recessive in origin.

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Year:  1975        PMID: 1183069     DOI: 10.1111/j.1399-0004.1975.tb01502.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Authors:  Laura S Farach; Mary E Little; Angela L Duker; Clare V Logan; Andrew Jackson; Jaqueline T Hecht; Michael Bober
Journal:  Am J Med Genet A       Date:  2017-12-19       Impact factor: 2.802

2.  Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Authors:  Ivan Shelihan; Sophie Ehresmann; Cinzia Magnani; Francesca Forzano; Chiara Baldo; Nicola Brunetti-Pierri; Philippe M Campeau
Journal:  Hum Genet       Date:  2018-10-27       Impact factor: 4.132

  2 in total

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