Kreiborg S, Cohen M M
Department of Pedodontics, Royal Dental College, Copenhagen, Denmark.
J Craniofac Genet Dev Biol. 1993 Apr-Jun;13(2):73-5.
We report a severe case of Pfeiffer syndrome with an early demise. The mother and her own father had unilateral stub thumb, which was inherited as a coincidental autosomal dominant trait. Although the affected thumb was short, it was not broad and neither family member had any features of Pfeiffer syndrome. We conclude that our patient represents a new Pfeiffer syndrome mutation.
我们报告了一例 Pfeiffer 综合征的严重病例，该患者早期死亡。患者的母亲及其父亲有单侧短拇指，这作为一种巧合的常染色体显性性状遗传。虽然受累拇指短，但并不宽，且两名家庭成员均无 Pfeiffer 综合征的任何特征。我们得出结论，我们的患者代表一种新的 Pfeiffer 综合征突变。
