Joss Shelagh, Dean John C S
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, UK.
Clin Dysmorphol. 2002 Oct;11(4):271-5. doi: 10.1097/00019605-200210000-00008.
We report two 12-year-old monozygotic twins followed from birth. Their features include midface hypoplasia, a prominent forehead, coarse features, sensorineural deafness, short stature with thoracic kyphosis and lumbar lordosis and intellectual delay. As they have developed, their features have been reminiscent of a storage disorder but mucopolysaccharidoses, mucolipidoses and gangliosidoses have been excluded by biochemical testing. We discuss the phenotypic overlap with the Schinzel-Giedion syndrome but highlight the important differences. Individuals with Schinzel-Giedion syndrome tend to have renal and cardiac malformations and to have a very poor outlook, often dying in the first 3 years of life. We suggest that these twins have a previously undescribed Schinzel-Giedion like syndrome.
我们报告了一对自出生起就接受随访的12岁同卵双胞胎。他们的特征包括面中部发育不全、前额突出、面容粗糙、感音神经性耳聋、身材矮小伴胸椎后凸和腰椎前凸以及智力发育迟缓。随着他们的成长，其特征让人联想到一种贮积症，但生化检测已排除了黏多糖贮积症、黏脂贮积症和神经节苷脂贮积症。我们讨论了与申泽尔 - 吉迪恩综合征的表型重叠，但强调了重要差异。患有申泽尔 - 吉迪恩综合征的个体往往有肾脏和心脏畸形，预后很差，通常在生命的头3年死亡。我们认为这对双胞胎患有一种此前未被描述的类似申泽尔 - 吉迪恩综合征。
