Froster U G, Rehder H, Höhn W, Oberheuser F
Klinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität zu Lübeck, Germany.
Am J Med Genet. 1993 Oct 1;47(5):717-22. doi: 10.1002/ajmg.1320470527.
Teebi and Shaltout [1989: Am J Med Genet 33: 58-60] described a new syndrome of craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage in children born to a consanguineous couple. We report on a second family with the same pattern of anomalies occurring in a liveborn female and 3 spontaneously aborted fetuses, and include autopsy findings. As additional findings 2 of our cases had unilateral microphthalmia and kidney anomalies. Our observation confirms that this pattern of anomalies is a distinct syndrome with autosomal recessive inheritance; we suggest the synonym Teebi-Shaltout syndrome.
蒂比和沙尔图特[1989年：《美国医学遗传学杂志》33卷：58 - 60页]描述了一种新的综合征，该综合征存在于一对近亲结婚夫妇所生子女中，表现为颅面异常、毛发异常、手指屈曲畸形和尾状附属物。我们报告了另一个家庭，一名存活的女性和3名自然流产胎儿出现了相同模式的异常情况，并包括尸检结果。另外，我们的2例病例有单侧小眼畸形和肾脏异常。我们的观察证实，这种异常模式是一种具有常染色体隐性遗传的独特综合征；我们建议使用同义词蒂比 - 沙尔图特综合征。
