The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

American journal of medical genetics ·Vol. 11 ·No. 1 ·1982-01-00 ·Pages 113-9

Kelly TE, Wells HH, Tuck KB

Abstract

The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome. This observation suggests that the Weissenbacher-Zweymüller syndrome is in fact a variant of the Stickler syndrome.

MeSH Terms

Adult Bone and Bones/abnormalities,diagnostic imaging Child, Preschool Female Genes, Dominant Humans Infant, Newborn Male Micrognathism/genetics Middle Aged Myopia/genetics Radiography Retinal Diseases/genetics Syndrome Terminology as Topic

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Kelly T E

Wells H H

Tuck K B

Article Info

Journal

American journal of medical genetics

Abbr.

Am J Med Genet

ISSN

0148-7299

DOI

10.1002/ajmg.1320110113

Published

1982-01-00

Pages

113-9

Language

English

Region

United States

NLM ID

7708900

Subset

External Links

PubMed source DOI: 10.1002/ajmg.1320110113

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The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

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