Literature DB >> 7282772

A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

D Duca, I Pană, M Ciovirnache, L Simionesu, I Ispas, C Maxililian.   

Abstract

We reported an apparently previously undescribed syndrome, designated the coxoauricular syndrome, in a mother and her 3 daughters, all of whom shared in variable manner shortness of stature, minor vertebral and pelvic changes, dislocated hip(s), and microtia with corresponding hearing loss. The oldest daughter had coincidental Ullrich-Turner syndrome with 46, Xdel(X)(q 13) chromosome constitution. Inheritance of the trait in this family is dominant, either autosomal or X-linked, with hemizygote lethality.

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Year:  1981        PMID: 7282772     DOI: 10.1002/ajmg.1320080208

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


  3 in total

1.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

2.  Microtia and short stature: a new syndrome.

Authors:  B Cohen; I K Temple; J C Symons; C M Hall; D G Shaw; M Bhamra; A M Jackson; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

3.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

  3 in total

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