Montoro Cremades D, Manchón Trives I, Botella López V, Alcaraz Más L, García Martínez M R, Galán Sánchez F
Unidad de Neonatología, Hospital General Universitario, Alicante, España.
An Pediatr (Barc). 2011 Apr;74(4):266-9. doi: 10.1016/j.anpedi.2010.11.017. Epub 2011 Feb 5.
Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacent genes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH.
Greig头多指（趾）综合征是一种罕见的常染色体显性综合征，由位于7p14.1细胞带的GLI3基因突变引起，其特征为多指（趾）、巨头畸形和眼距过宽三联征。在大约20%的病例中可检测到大小不等的缺失。如果缺失较大且影响GLI3以及其他基因，则预期会出现更严重的表型。因此，Greig头多指（趾）综合征连续性基因综合征是一种由GLI3及相邻基因单倍剂量不足引起的多发性畸形综合征。我们描述了一例通过阵列比较基因组杂交诊断为患有多指（趾）、眼距过宽和小头畸形且存在1.5 Mb父源7p14.1微缺失的新生女婴病例。
