van Bever Y, Hennekam R C
Institute of Human Genetics, University of Amsterdam, The Netherlands.
Clin Genet. 1995 May;47(5):263-6. doi: 10.1111/j.1399-0004.1995.tb04308.x.
An adult female is described with mild developmental delay, typical facies, dental anomalies, arachnodactyly and camptodactyly. In many respects she resembles four other patients described earlier, but differs in not having multiple pterygia, nor severe mental retardation. We suggest that this entity should be named Haspeslagh syndrome. The differential diagnosis is discussed.
描述了一名成年女性,她有轻度发育迟缓、典型面容、牙齿异常、蜘蛛指(趾)和屈曲指。在许多方面,她与之前描述的其他四名患者相似,但不同之处在于没有多发性翼状胬肉,也没有严重智力障碍。我们建议将这个病症命名为哈斯佩斯拉赫综合征。并讨论了鉴别诊断。