Rodini E S, Richieri-Costa A
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.
Am J Med Genet. 1990 Sep;37(1):42-53. doi: 10.1002/ajmg.1320370112.
We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.
我们报告了20例患有缺指（趾）、外胚层发育不良、腭裂综合征（EEC综合征）的巴西患者（11例散发病例和9例家族性病例）。文中讨论了涉及外胚层发育不良/肢体异常以及唇腭裂的综合征的遗传学方面、临床表现和鉴别诊断。
