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标题：EVIDENCE FOR A NEW AD SYNDROME: REPORT OF A LARGE IRANIAN SIBSHIP WITH SEVERE MULTIPLE SYNOSTOSIS
其他标题：EVIDENCE FOR A NEW AD SYNDROME: REPORT OF A LARGE IRANIAN SIBSHIP WITH SEVERE MULTIPLE SYNOSTOSIS
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作者：D.D. Farhud
期刊名称：Iranian Journal of Public Health
印刷版ISSN：2251-6085
电子版ISSN：2251-6093
出版年度：1997
卷号：26
期号：1-2
页码：39-44
语种：English
出版社：Tehran University of Medical Sciences
摘要：An investigation was carried out on a young unrelated couple, both 29 years old, with two boys and three girls, 3 months to 8 years old. One boy and the mother were healthy, the other four children and the father were affected. The family, originally from the district of Nour, in northern Iran, near the Caspian Sea, was first counseled at the Genetic Clinic in Tehran in 1984. Several trips were made to the location in a period of five years, to examine this large family. The major anomalies in this family were brachyphalangia, elbow joint aplasia (humero - radial synostosis, 110 to 140°C), carpal/tarsal synostosis and talus/calcaneus fusion. All affected individuals present a fixation of the feet in supination position and because of partial synostosis (physis) of calcaneus and talus, walked on lateral side with the external cant of the foot. All deformities were studied by clinical examinations and radiological confirmations, on each affected individual.
关键词：AD syndrome; New syndrome; Severe multiple synostosis