拉普-霍奇金综合征：一个巴西家庭的报告。
Rapp-Hodgkin syndrome: report of a Brazilian family.
作者信息
Rodini E O, Freitas J A, Richieri-Costa A
机构信息
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitacão de Lesões Lábio-Palatais, Bauru, Brazil.
出版信息
Am J Med Genet. 1990 Aug;36(4):463-6. doi: 10.1002/ajmg.1320360418.
PMID:2389804
Abstract
We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp-Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1-2-3-4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.
摘要
我们报告了一个四代中有11名患者受影响的巴西家庭，这些患者患有拉普-霍奇金综合征。不同患者的主要临床发现从单纯的毛发发育异常（头发稀疏、脆弱和干燥）到外胚层发育不良（1-2-3-4型）、腭裂、泪道异常和轻度肢体异常。文中讨论了有关这种疾病的临床和遗传学方面的问题。
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