Literature DB >> 4050857

The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.

A Hayes, T Costa, R C Polomeno.   

Abstract

We report on a child with Duane anomaly, deafness, cervical spine, and radial ray abnormalities. A sister of the proposita had hemifacial microsomia, cervical abnormalities, and hypoplasia of the thenar eminence. Four relatives had hypoplasia of the thenar eminence. A fifth had preaxial polydactyly. Duane anomaly was present in two sixth-degree relatives. This appears to be an autosomal dominant trait. Singly or in combination the abnormalities seen in this family have all been described in association with Duane anomaly. Their occurrence in the same family suggests that they are not independent entities but represent pleiotropic effects of the same gene.

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Year:  1985        PMID: 4050857     DOI: 10.1002/ajmg.1320220208

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


  7 in total

1.  Analysis and functional evaluation of the hair-cell transcriptome.

Authors:  Brian M McDermott; Jessica M Baucom; A J Hudspeth
Journal:  Proc Natl Acad Sci U S A       Date:  2007-07-02       Impact factor: 11.205

2.  Muscular involvement in the Holt-Oram syndrome.

Authors:  S Spranger; H Ulmer; J Tröger; O Jansen; J Graf; H M Meinck; M Spranger
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

3.  [Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].

Authors:  A H Haus; J Kohlhase; B Käsmann; B Seitz
Journal:  Ophthalmologe       Date:  2008-06       Impact factor: 1.059

4.  Isolated atlantal stenosis in a patient with idiopathic growth hormone deficiency, and Klippel-Feil and Duane's syndromes.

Authors:  R Shane Tubbs; W Jerry Oakes; Jeffrey P Blount
Journal:  Childs Nerv Syst       Date:  2004-05-07       Impact factor: 1.475

5.  Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Authors:  Amira Elmakky; Ilaria Stanghellini; Antonio Landi; Antonio Percesepe
Journal:  Curr Genomics       Date:  2015-08       Impact factor: 2.236

6.  A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.

Authors:  Xiuli Ma; Rui Huang; Guo Li; Tiesong Zhang; Jing Ma
Journal:  Mol Med Rep       Date:  2022-02-18       Impact factor: 2.952

7.  Bilateral congenital absence of flexor pollicis brevis and abductor pollicis brevis muscles with bilateral thenar atrophy: a case report.

Authors:  Kenan Koca; Safak Ekinci; Tolga Ege; Selahattin Ozyurek; Mustafa Kurklu; Bilal Battal; Mustafa Basbozkurt
Journal:  Clin Med Insights Arthritis Musculoskelet Disord       Date:  2012-06-25
  7 in total

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