Noonan phenotype associated with neurofibromatosis.

American journal of medical genetics ·Vol. 21 ·No. 3 ·1985-07-00 ·Pages 457-62

Allanson JE, Hall JG, Van Allen MI

Abstract

We report on four patients with neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness. No family history of neurofibromatosis was present in any case. Average paternal and maternal age at birth was 37 and 28 years, respectively, suggestive of a new mutation. The presence of a distinct phenotype and hypotonia in these patients with neurofibromatosis is suggestive of a new separate disorder.

MeSH Terms

Adult Body Height Child, Preschool Developmental Disabilities/genetics Facial Expression Female Humans Infant Male Maternal Age Muscle Hypotonia/genetics Mutation Neurofibromatosis 1/genetics Noonan Syndrome/genetics Paternal Age Phenotype Pregnancy, High-Risk Syndrome

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Allanson J E

Hall J G

Van Allen M I

Article Info

Journal

American journal of medical genetics

Abbr.

Am J Med Genet

ISSN

0148-7299

DOI

10.1002/ajmg.1320210307

Published

1985-07-00

Pages

457-62

Language

English

Region

United States

NLM ID

7708900

Subset

External Links

PubMed source DOI: 10.1002/ajmg.1320210307

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Noonan phenotype associated with neurofibromatosis.

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