Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.

American journal of medical genetics ·Vol. 21 ·No. 2 ·1985-06-00 ·Pages 317-24

Miny P, Lenz W

Abstract

We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.

MeSH Terms

Adult Bone Diseases, Developmental/genetics Child, Preschool Consanguinity Deafness/genetics Facial Expression Female Genes, Recessive Humans Infant Male Nasal Bone/abnormalities Syndrome

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Miny P

Lenz W

Article Info

Journal

American journal of medical genetics

Abbr.

Am J Med Genet

ISSN

0148-7299

DOI

10.1002/ajmg.1320210214

Published

1985-06-00

Pages

317-24

Language

English

Region

United States

NLM ID

7708900

Subset

External Links

PubMed source DOI: 10.1002/ajmg.1320210214

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Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.

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