Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Velo-cardio-facial syndrome is the most common contiguous gene disorder in humans and constitutes 8% of patients with clefts of the secondary palate. Speech disorders, including severe hypernasality and articulation impairment have been documented as among the most common clinical manifestations of the disorder. A series of 36 consecutive patients with VCFS ranging in age from 3 to 14 years, all confirmed to have a 22q11.2 deletion, were studied to determine specific risk factors associated with VPI and articulation impairment. Factors studied included palatal clefting, hypotonia, platybasia, and adenoid size. The factor that correlated most strongly with speech disorders was adenoid hypoplasia or absence, a common manifestation in the syndrome. It is hypothesized that early identification of the absence or hypoplasia of the adenoids can result in the implementation of appropriate therapy plans to avoid severe disorders of speech intelligibility.
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PMID:Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development. 1096 79