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

We reported an apparently previously undescribed syndrome, designated the coxoauricular syndrome, in a mother and her 3 daughter, 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 oldes...

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Veröffentlicht in:American journal of medical genetics 1981, Vol.8 (2), p.173-180
Hauptverfasser: Duca, Daniela, Panǎ, I., Ciovirnache, Martha, Simionesu, Ligia, Ispas, I., Maximilian, C., Opitz, John M.
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Sprache:eng
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Zusammenfassung:We reported an apparently previously undescribed syndrome, designated the coxoauricular syndrome, in a mother and her 3 daughter, 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)(q13) chromosome constitution. Inheritance of the trait in this family is dominant, either autosomal or X‐linked, with hemizygote lethality.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320080208