唇腭裂、扭曲发、耳部畸形、手指和脚趾部分并指（趾）畸形以及智力障碍：一种新的综合征？
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
作者信息
Zlotogora J, Zilberman Y, Tenenbaum A, Wexler M R
出版信息
J Med Genet. 1987 May;24(5):291-3. doi: 10.1136/jmg.24.5.291.
Abstract
Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.
摘要
报告了两名患有包括唇腭裂、头皮毛发稀疏、耳朵畸形突出以及手指和脚趾部分并指（趾）畸形综合征的同胞。年龄较大的孩子还患有智力迟钝和扭曲发。这种综合征很可能作为常染色体隐性疾病遗传。
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