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[超声指畸形综合征、外胚层发育不良、面部裂隙与EEC综合征:12例报告(作者译)]

[Echodactyly syndrome, ectodermic dysplasia, facial cleft, and EEC syndrome : report on 12 cases (author's transl)].

作者信息

Psaume J, Gray F, Cousteau C, Trigo G

出版信息

Rev Stomatol Chir Maxillofac. 1981;82(4):226-9.

PMID:6944758
Abstract

Twelve cases of a rare syndrome are reported. Findings included a facial cleft, adactyly of the 2nd and 3rd fingers and 2nd and 3rd toes, and ectodermic dysplasia involving anodontia, hypotrichosis, and albinoid type pigmentation of the skin and the exoskeleton, with clear eyes and chronic conjunctivitis. An interesting finding was that the anodontia affected the permanent teeth only, initially involving the incisors and the second premolars (nine cases out of twelve). Inversely, the deciduous teeth were unaffected, except for the upper first molars in two cases. The canines, usually constantly present, were absent in two out of three cases.

摘要

报告了12例罕见综合征病例。检查结果包括面部裂隙、第二和第三指及第二和第三趾缺指(趾)畸形,以及外胚层发育异常,表现为无牙症、毛发稀少、皮肤和外骨骼白化样色素沉着、眼睛清澈及慢性结膜炎。一个有趣的发现是,无牙症仅影响恒牙,最初累及门牙和第二前磨牙(12例中有9例)。相反,乳牙未受影响,仅2例上颌第一磨牙除外。通常一直存在的犬齿,在3例中有2例缺失。

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