[Speech impairment and the Smith-Magenis syndrome].
The Smith-Magenis syndrome (SMS) is a distinct multiple congenital anomaly caused by an interstitial deletion of the chromosome 17 p11.2. The phenotype includes dysmorphic features, mental retardation, speech delay, signs of peripheral neuropathy, and neurobehavioral problems. Also sensorineural and conduction hearing loss are described. In children with speech delay the physician should consider a genetic or syndromal disease.
Bergmann
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Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule, 30625, Hannover. bergm.c@web.de
Morlot
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Ptok
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D013064:Speech Disorders / Q000175:diagnosis* / Q000235:genetics