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  • Title: Another adult with Meier-Gorlin syndrome--insights into the natural history.
    Author: Shalev SA, Hall JG.
    Journal: Clin Dysmorphol; 2003 Jul; 12(3):167-9. PubMed ID: 14564153.
    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.
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