Shalev Stavit A, Hall Judith G
Department of Medical Genetics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
Clin Dysmorphol. 2003 Jul;12(3):167-9. doi: 10.1097/01.mcd.0000065052.36236.32.
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.
迈尔-戈林综合征（MGS）是一种罕见的常染色体隐性疾病，其特征为双侧小耳畸形、髌骨发育不全或发育不良，以及严重的宫内和出生后生长迟缓。我们描述了一名患有MGS的25岁女性的表型，并报告了其病史。她的表型演变特征为严重生长迟缓，头部生长减速，随后头部相对较小，智力正常，面部特征改变为更匀称的外观，关节功能改善，乳房发育不完全。她成年后的表型其他特征包括性格开朗、额头高、鼻唇沟加深、耳朵相对非常小、乳房发育不全以及月经正常。
