Brief Clinical Report

Orofaciodigital syndrome type IV: Report of a patient

  1. N. C. Nevin1,*,
  2. P. S. Thomas2,
  3. John M. Opitz Editor,
  4. James F. Reynolds Editor

Article first published online: 3 JUN 2005

DOI: 10.1002/ajmg.1320320202

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 32, Issue 2, pages 151–154, February 1989

Additional Information

How to Cite

Nevin, N. C., Thomas, P. S., Opitz, J. M. and Reynolds, J. F. (1989), Orofaciodigital syndrome type IV: Report of a patient. Am. J. Med. Genet., 32: 151–154. doi: 10.1002/ajmg.1320320202

Author Information

  1. 1

    Department of Medical Genetics, The Queen's University of Belfast, Belfast, Northern Ireland

  2. 2

    Department of Radiology, The Royal Belfast Hospital for Sick Children, Belfast, Northern Ireland

*Department of Medical Genetics, Floor A, Belfast City Hospital Tower, Lisburn Road, Belfast BT9 7AB, Northern Ireland

Publication History

  1. Issue published online: 3 JUN 2005
  2. Article first published online: 3 JUN 2005
  3. Manuscript Revised: 29 AUG 1988
  4. Manuscript Received: 6 JUL 1987

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Keywords:

  • pre- and postaxial polydactyly;
  • mesomelic limb shortness;
  • tibial hypoplasia;
  • severe talipes equinovarus;
  • deafness;
  • autosomal recessive inheritance

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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