Apparent Malpuech syndrome: report on three Brazilian patients with additional signs.
Apparent Malpuech syndrome: report on three Brazilian patients with additional signs.
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明显的 Malpuech 综合征：三名巴西患者的报告，有其他症状。
DOI：
10.1002/ajmg.1320580104
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
M. Guion
中科院分区：
文献类型：
--
作者：
M. Guion
我们报告了3例不相关的巴西患者，他们有身材矮小、远视、眼睛异常、面部裂、听力丧失、泌尿生殖系统异常、脐膨出、“尾端附属物”和智力迟钝。2例为正常和非近亲父母所生，1例为近亲（表兄妹）所生（F = 1/16）。我们的患者与Malpuech等人先前报道的患者相似[Am J Med Genet 16:47 - 480,1983]，这使我们认为他们患有相同的疾病。
We report on 3 unrelated Brazilian patients with shortness of stature, hypertelorism, eye anomalies, facial clefting, hearing loss, urogenital abnormalities, omphalocele, "caudal appendage," and mental retardation. Two patients were born to normal and non-consanguineous parents and one was born to consanguineous (first cousin) parents (F = 1/16). The similarity of our patients with those previously reported by Malpuech et al. [Am J Med Genet 16:475-480, 1983] led us to suggest that they have the same condition.