Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes.
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PMID:Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. 1256 Oct 58

Weaver syndrome is a rare condition characterized by accelerated growth, advanced osseous maturation, and distinct craniofacial features that can occur in both males and females. Etiology is unknown and no definitive oral characteristics have been established. The objective of this case report is to describe the oral and radiographic findings of a 14-year-old male with Weaver syndrome. A comprehensive dental examination was performed under general anesthesia. The clinical findings were: severe generalized heavy plaque with subgingival calculus, gingival edema, malocclusion and maxillary atresia, mild micrognathia of the mandible, enlarged tongue, and bifid uvula. Clinical and radiographic caries were not found. Out of over 40 possible cases of Weaver syndrome previously reported in the literature, only two were related to the oral cavity. Bifida uvula was not mentioned until now as clinical findings associated with the syndrome. Autism, macroglossia, and cleft palate were seldom mentioned. The oral manifestations in Weaver syndrome are not yet well known. Future studies will be required to improve the subject matter.
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PMID:Oral, radiographical, and clinical findings in Weaver syndrome: a case report. 2608 82