Mantilla-Capacho J M, Arnaud L, Díaz-Rodriguez M, Barros-Núñez P
División de Genética, CIBO-IMSS, Guadalajara, México.
Genet Couns. 2005;16(4):403-6.
The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly. The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes). The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion. Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available. On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome. This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.
Apert综合征的特征为颅缝早闭以及手足并指（趾）畸形。尽管大多数病例为散发性，但常染色体显性遗传模式已有充分记录。FGFR2基因的两种突变（Ser252Trp和Pro253Arg）占大多数病例。我们报告一例患有罕见的伴有多指（趾）畸形的Apert综合征患者。该先证者有塔头短头畸形，示指至小指完全并指（“连指手套样手”）以及所有足趾皮肤融合。X线显示冠状缝颅缝早闭以及手足的轴前多指（趾）畸形伴远端骨融合。分子分析发现FGFR2基因中有一个C755G颠换（Ser252Trp）。仅有8例伴有轴前多指（趾）畸形的Apert综合征患者被报道，而这是第一例可进行分子诊断的病例。基于该患者的分子学发现，多指（趾）畸形应被视为Apert综合征异常谱系的一部分。这一论断将确立对尖头并指（趾）畸形进行新的分子分类的必要性。
