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A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.
Am J Med Genet. 1981; 8(2):173-80.AJ

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.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7282772

Citation

Duca, D, et al. "A Previously Unreported, Dominantly Inherited Syndrome of Shortness of Stature, Ear Malformations, and Hip Dislocation: the Coxoauricular Syndrome--autosomal or X-linked Male-lethal." American Journal of Medical Genetics, vol. 8, no. 2, 1981, pp. 173-80.
Duca D, Pană I, Ciovirnache M, et al. A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal. Am J Med Genet. 1981;8(2):173-80.
Duca, D., Pană, I., Ciovirnache, M., Simionesu, L., Ispas, I., & Maxililian, C. (1981). A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal. American Journal of Medical Genetics, 8(2), 173-80.
Duca D, et al. A Previously Unreported, Dominantly Inherited Syndrome of Shortness of Stature, Ear Malformations, and Hip Dislocation: the Coxoauricular Syndrome--autosomal or X-linked Male-lethal. Am J Med Genet. 1981;8(2):173-80. PubMed PMID: 7282772.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal. AU - Duca,D, AU - Pană,I, AU - Ciovirnache,M, AU - Simionesu,L, AU - Ispas,I, AU - Maxililian,C, PY - 1981/1/1/pubmed PY - 1981/1/1/medline PY - 1981/1/1/entrez SP - 173 EP - 80 JF - American journal of medical genetics JO - Am J Med Genet VL - 8 IS - 2 N2 - 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. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/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_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1981&volume=8&issue=2&spage=173 DB - PRIME DP - Unbound Medicine ER -