A previously unreported,dominantly inherited syndrome of shortness of stature,ear malformations,and hip dislocation: The coxoauricular syndrome—autosomal or X-linked male-lethal |
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Authors: | Daniela Duca,I. PanÎ ,Martha Ciovirnache,Ligia Simionesu,I. Ispas,C. Maximilian,John M. Opitz |
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Abstract: | 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. |
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Keywords: | coxoauricular syndrome dislocated hips microtia shortness of stature Ullrich-Turner syndrome 46 X del(X)(q13) autosomal dominant inheritance X-linked dominant malelethal inheritance |
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