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.