de Nazaré Trindade Marques M
J Genet Hum. 1980 Dec;28(4):83-8.
A case of the Larsen's syndrome in a family is described. The girl has joint dislocations, an unusual face and bone abnormalities. Larsen's syndrome in this case has a genetic recessive origin. Both dominant and recessive forms may exist. The heterogeneity of the syndrome is emphasized and the differential diagnosis has been cited. A divergent strabismus is reported as an additional clinical finding.
本文描述了一个家族中出现的 Larsen 综合征病例。该女孩有关节脱位、面容异常和骨骼畸形。此病例中的 Larsen 综合征为常染色体隐性遗传。该综合征可能存在显性和隐性两种遗传形式。文中强调了该综合征的异质性并列举了鉴别诊断方法。另外还报告了一例斜视的临床症状。
