Stratton R F
Department of Pediatrics, Wilford Hall U.S. Air Force Medical Center, Lackland AFB, Texas 78236-5300.
Am J Med Genet. 1991 Apr 1;39(1):78-80. doi: 10.1002/ajmg.1320390117.
Teebi (Am J Med Genet 28:581-591, 1987) described a pattern of anomalies in an Arab kindred involving 16 individuals in 4 generations. Although some findings were similar to those in craniofrontonasal dysplasia, absence of craniosynostosis, normal to slightly broad nasal tip, normal nails, and male to male transmission distinguished this as a separate entity. This paper describes a U.S. family with similar findings, involving 6 individuals (2 male and 4 female) in 4 generations, with male to male transmission.
提比(《美国医学遗传学杂志》28:581 - 591,1987年)描述了一个阿拉伯家族中的一种异常模式,该家族四代中有16人受累。尽管有些发现与颅额鼻发育不良相似,但无颅缝早闭、鼻尖正常至略宽、指甲正常以及男性与男性之间的传递,将其区分开来作为一个独立的病种。本文描述了一个美国家族,有相似的发现,四代中有6人(2名男性和4名女性),存在男性与男性之间的传递。