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 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.
D000328:Adult; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D004569:Electroencephalography; D005260:Female; D005799:Genes, Dominant; D006062:Gonadotropins / Q000097:blood; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009634:Noonan Syndrome / Q000150:complications; D010375:Pedigree
D006062:Gonadotropins