Department of Pediatrics, PGIMER and Associated RML Hospital, New Delhi 110001, India.
Eur J Pediatr. 2013 Aug;172(8):1131-5. doi: 10.1007/s00431-013-1938-2. Epub 2013 Jan 19.
The Greig cephalopolysyndactyly syndrome (GCPS) is a rare, autosomal dominant, pleiotropic, multiple congenital anomaly syndrome. The typical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. We present two families, with GCPS with a non-syndromic phenotype, without the characteristic craniofacial anomalies and with the presence of complex digital anomalies including various types of polydactyly and syndactyly of the fingers and toes. The cases were proven to be GCPS by mutational analysis of GL13 gene. Our patients support the fact that the phenotypic spectrum of GL13 mutations is broader than that encompassed by the usual clinical diagnostic criteria. Individuals with features of familial polysyndactyly should be screened for mutations in GL13 even if they do not fulfill clinical criteria.
格雷格头面多肢体综合征（GCPS）是一种罕见的常染色体显性、多效性、多发性先天畸形综合征。其典型表现包括眼距过宽、大头畸形伴额骨突出和并指（趾）畸形。我们介绍了两个家系，均表现为 GCPS 非综合征表型，无特征性颅面异常，存在复杂的数字畸形，包括各种类型的多指（趾）畸形和并指（趾）畸形。通过 GL13 基因突变分析证实了这些病例为 GCPS。我们的患者证实了 GL13 基因突变的表型谱比通常的临床诊断标准所包含的更广泛。即使不符合临床标准，具有家族性并指（趾）畸形特征的个体也应筛查 GL13 基因突变。
