| Literature DB >> 7282772 |
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.Entities:
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Year: 1981 PMID: 7282772 DOI: 10.1002/ajmg.1320080208
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299