Aalfs C M, Oosterwijk J C, van Schooneveld M J, Begeman C J, Wabeke K B, Hennekam R C
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Clin Dysmorphol. 1996 Apr;5(2):93-103. doi: 10.1097/00019605-199604000-00001.
Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary teeth, oligodontia, variable root length including dental radiculomegaly, heart defects and cutaneous syndactyly of the 2nd-3rd toes. Abnormalities present in only one of the two patients were a cleft palate and a transverse vaginal septum, respectively. There are numerous similarities between our two patients and the family described by Wilkie et al. ((1993): Clin Dysmorphol 2: 114-119) and all may be examples of the same entity.
本文描述了两名智力正常的成年女性，她们并无血缘关系。她们呈现出相似的临床症状，包括长脸且窄、先天性白内障、小眼症、小角膜、鼻梁高、鼻子短、鼻尖宽、人中长、双侧听力丧失、乳牙滞留、缺牙症、牙根长度不一（包括牙根粗大）、心脏缺陷以及第二和第三脚趾皮肤并指。两名患者中仅一人出现的异常分别是腭裂和阴道横隔。我们的两名患者与Wilkie等人（(1993): Clin Dysmorphol 2: 114 - 119）所描述的家族有许多相似之处，所有这些可能都是同一病症的实例。
