期刊
MOLECULAR SYNDROMOLOGY
卷 2, 期 6, 页码 259-261出版社
KARGER
DOI: 10.1159/000337925
关键词
11p11 deletion; Epilepsy; EXT2; Mental retardation; Potocki-Shaffer
We describe the case of an adult patient affected by multiple exostoses, severe mental retardation, epilepsy and facial dysmorphisms with a deletion of similar to 2.3 Mb on chromosome 11p11.21, correlated to Potocki-Shaffer syndrome (PS S). PSS is a rare contiguous gene deletion syndrome, mainly characterized by multiple exostoses and bilateral parietal foramina. Mental retardation and craniofacial dysmorphisms have often been reported, too. Although the patient showed many signs of PSS since early childhood, the diagnosis was suggested only when we examined her at adult age. This case highlights how frequently rare diseases remain undiagnosed till adulthood and is an excellent example of the need for a timely and correct diagnosis. Copyright (C) 2012 S. Karger AG, Basel
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