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Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
Am J Med Genet. 1990 Apr; 35(4):516-8.AJ

Abstract

We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder.

Authors+Show Affiliations

Kuwait Medical Genetics Centre, Maternity Hospital.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2333881

Citation

Farag, T I., and A S. Teebi. "Autosomal Recessive Inheritance of a Syndrome of Hypertelorism, Hypospadias, and Tetralogy of Fallot?" American Journal of Medical Genetics, vol. 35, no. 4, 1990, pp. 516-8.
Farag TI, Teebi AS. Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? Am J Med Genet. 1990;35(4):516-8.
Farag, T. I., & Teebi, A. S. (1990). Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? American Journal of Medical Genetics, 35(4), 516-8.
Farag TI, Teebi AS. Autosomal Recessive Inheritance of a Syndrome of Hypertelorism, Hypospadias, and Tetralogy of Fallot. Am J Med Genet. 1990;35(4):516-8. PubMed PMID: 2333881.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? AU - Farag,T I, AU - Teebi,A S, PY - 1990/4/1/pubmed PY - 1990/4/1/medline PY - 1990/4/1/entrez SP - 516 EP - 8 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 35 IS - 4 N2 - We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2333881/Autosomal_recessive_inheritance_of_a_syndrome_of_hypertelorism_hypospadias_and_tetralogy_of_Fallot L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=35&issue=4&spage=516 DB - PRIME DP - Unbound Medicine ER -