Another adult with Meier-Gorlin syndrome--insights into the natural history.
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.
Shalev
Stavit A
SA
Department of Medical Genetics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada. stavit_sh@clalit.org.il
Hall
Judith G
JG
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D004423:Ear / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006801:Humans; D010329:Patella / Q000002:abnormalities*; D010551:Personality; D010641:Phenotype; D013577:Syndrome