Craigen W J, Levy M L, Lewis R A
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Am J Med Genet. 1997 Aug 8;71(2):186-8. doi: 10.1002/(sici)1096-8628(19970808)71:2<186::aid-ajmg12>3.0.co;2-a.
Schöpf-Schulz-Passarge syndrome is a rare form of ectodermal dysplasia comprising hypotrichosis, hypodontia, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy. To date, ten cases have been reported; all except one are compatible with autosomal recessive inheritance. We report on a family in which three full sibs and one half-sib have Schopf-Schulz-Passarge syndrome, yet there is no other evidence of dominant transmission in prior or subsequent generations. Possible explanations are discussed.
朔普夫-舒尔茨-帕萨热综合征是一种罕见的外胚层发育异常疾病，其特征包括毛发稀少、牙齿发育不全、眼睑囊肿异常、掌跖角化病和指甲营养不良。迄今为止，已报道了10例病例；除1例之外，其余均符合常染色体隐性遗传。我们报告了一个家族，其中有3个同胞手足和1个同父异母（或同母异父）手足患有朔普夫-舒尔茨-帕萨热综合征，但在之前或之后的几代人中没有其他显性遗传的证据。文中讨论了可能的解释。
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