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Autosomal recessive Robinow syndrome.
Am J Med Genet. 1990 Jan; 35(1):64-8.AJ

Abstract

Two brothers of normal first-cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large mouth, and hypogenitalism. Parental consanguinity and affected individuals in 2 sibships of common ancestry strongly suggest autosomal recessive inheritance. Similar cases from the literature are briefly reviewed.

Authors+Show Affiliations

Kuwait Medical Genetics Centre, Maternity Hospital.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2301471

Citation

Teebi, A S.. "Autosomal Recessive Robinow Syndrome." American Journal of Medical Genetics, vol. 35, no. 1, 1990, pp. 64-8.
Teebi AS. Autosomal recessive Robinow syndrome. Am J Med Genet. 1990;35(1):64-8.
Teebi, A. S. (1990). Autosomal recessive Robinow syndrome. American Journal of Medical Genetics, 35(1), 64-8.
Teebi AS. Autosomal Recessive Robinow Syndrome. Am J Med Genet. 1990;35(1):64-8. PubMed PMID: 2301471.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive Robinow syndrome. A1 - Teebi,A S, PY - 1990/1/1/pubmed PY - 1990/1/1/medline PY - 1990/1/1/entrez SP - 64 EP - 8 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 35 IS - 1 N2 - Two brothers of normal first-cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large mouth, and hypogenitalism. Parental consanguinity and affected individuals in 2 sibships of common ancestry strongly suggest autosomal recessive inheritance. Similar cases from the literature are briefly reviewed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2301471/Autosomal_recessive_Robinow_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=35&issue=1&spage=64 DB - PRIME DP - Unbound Medicine ER -