Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Clin Dysmorphol. 2003 Jul;12(3):167-9.

Another adult with Meier-Gorlin syndrome--insights into the natural history.

Author information

  • 1Department of Medical Genetics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada. stavit_sh@clalit.org.il

Abstract

The Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder, characterized by bilateral microtia, aplasia or hypoplasia of the patellae, and severe intrauterine and post-natal growth retardation. We describe the phenotype and report the medical history of a 25-year-old woman with MGS. Her phenotypic evolution was characterized by severe growth retardation with decelerated growth of the head and subsequently a relatively small head, normal intelligence, alteration of the facial features to a more proportionate appearance, improvement of joint function and incomplete breast development. Other characteristics of her phenotype in adulthood include a cheerful personality, a high forehead and accentuated naso-labial folds, relatively very small ears, hypoplastic breasts, and normal menstruation.

PMID:
14564153
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Lippincott Williams & Wilkins
    Loading ...
    Write to the Help Desk