Roubicek M, Spranger J
Clin Genet. 1984 Dec;26(6):587-90. doi: 10.1111/j.1399-0004.1984.tb01108.x.
A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.
报道了一个患有手足轴后多指畸形和牙齿异常的四代家族。上下切牙的形状和数量异常。其他发现包括耳轮突出、指甲发育不全和发育异常以及轻度身材矮小。遗传方式为显性遗传，表现多样。建议该家族呈现的是1952年由韦尔斯描述的颌面骨发育不全综合征。为了将其与其他颌面骨发育不全区分开来，我们建议将这种病症命名为肢端牙发育不全。
