Cubuk P Ozyavuz, Ho L, Reversade B, Perçin E F
Genet Couns. 2016;27(3):405-410.
Matthew-Wood syndrome (MWS), also termed Microphthalmia, syndrome 9 (MCOPS9, MIM 601186), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is an autosomal recessive disorder characterised by ocular, respiratory and cardiac abnormalities. Mutations in retinoic acid 6 gene (STRA6) have been reported in clinically diagnosed patients with MWS. Here we presented a case with MWS, who has characteristic findings of the syndrome as well as dextrocardia as an undescribed feature, and bilateral streak gonads which was described only in one patient previously. Molecular analysis showed a homozygous exonic missense mutation in the STRA6 gene.
马修-伍德综合征（MWS），也称为小眼畸形综合征9（MCOPS9，MIM 601186）、斯皮尔综合征或肺发育不全、膈疝、无眼畸形和心脏缺陷综合征（PDAC综合征），是一种常染色体隐性疾病，其特征为眼部、呼吸系统和心脏异常。在临床诊断为MWS的患者中已报道视黄酸6基因（STRA6）存在突变。在此，我们报告了1例MWS病例，该患者具有该综合征的典型表现以及作为未描述特征的右位心，还有双侧条索状性腺，此前仅在1例患者中被描述过。分子分析显示STRA6基因存在纯合外显子错义突变。
