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Speech and language in Simpson-Golabi-Behmel syndrome: a case report
J Van Borsel1, N Baudonck, H Verhaaren
1Department of Ear, Nose, & Throat, Ghent University Hospital, Ghent University, Ghent, Belgium. john.vanborsel@ugent.be
Abstract:
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder caused by a mutation of the glypican-3 gene. The physical characteristics associated with SGBS have been documented in several papers, but information on the behavioral phenotype is scarce. We report on the speech and language characteristics in an 8 year-old-boy with SGBS. The boy performed very well on formal language tests but he also demonstrated poor pragmatic skills. Speech was characterized by a distorted articulation, distorted resonance, fluency failures, and a stereotype prosody. Many more case descriptions are necessary to delineate the full range of the behavioral phenotype of SGBS.
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