期刊
CLINICAL DYSMORPHOLOGY
卷 11, 期 4, 页码 271-275出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200210000-00008
关键词
midface hypoplasia; coarse facies; short stature; sensorineural deafness; Schinzel-Giedion syndrome
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.
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