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Orofaciodigital syndrome type IV: report of a patient.
Am J Med Genet. 1989 Feb; 32(2):151-4.AJ

Abstract

We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo-cleft of lip, pre- and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Five similar cases including the present patient are now on record. Autosomal recessive inheritance is likely.

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Authors+Show Affiliations

Nevin NC
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
Thomas PS
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome DisordersCleft LipGenes, RecessiveGenetic CounselingHumansInfant, NewbornMaleOrofaciodigital SyndromesRisk Factors

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2929654

Citation

Nevin, N C., and P S. Thomas. "Orofaciodigital Syndrome Type IV: Report of a Patient." American Journal of Medical Genetics, vol. 32, no. 2, 1989, pp. 151-4.
Nevin NC, Thomas PS. Orofaciodigital syndrome type IV: report of a patient. Am J Med Genet. 1989;32(2):151-4.
Nevin, N. C., & Thomas, P. S. (1989). Orofaciodigital syndrome type IV: report of a patient. American Journal of Medical Genetics, 32(2), 151-4.
Nevin NC, Thomas PS. Orofaciodigital Syndrome Type IV: Report of a Patient. Am J Med Genet. 1989;32(2):151-4. PubMed PMID: 2929654.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Orofaciodigital syndrome type IV: report of a patient. AU - Nevin,N C, AU - Thomas,P S, PY - 1989/2/1/pubmed PY - 1989/2/1/medline PY - 1989/2/1/entrez SP - 151 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 32 IS - 2 N2 - We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo-cleft of lip, pre- and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Five similar cases including the present patient are now on record. Autosomal recessive inheritance is likely. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2929654/Orofaciodigital_syndrome_type_IV:_report_of_a_patient_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=32&issue=2&spage=151 DB - PRIME DP - Unbound Medicine ER -