| Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder. | |
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MedLine Citation:
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PMID: 20802310 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The genetic background of Nicolaides-Baraitser syndrome is unclear in terms of cause and mode of inheritance, one of the more probable explanations is de novo mutation of a dominant gene. Some reported patients presented autistic features, although in none of these patients was the diagnosis of autism spectrum disorder formally made. We describe two unrelated patients with clinical features suggesting Nicolaides-Baraitser syndrome and, in addition, autism spectrum disorder is defined by the presence of the three cardinal core features: qualitative impairments in social, communicative, and behavioral development. |
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Authors:
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Simone Gana; Michela Panizzon; Daniela Fongaro; Angelo Selicorni; Luigi Memo; Valeria Scandurra; Chiara Vannucci; Marta Bigozzi; Maria Rosaria Scordo |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 20 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2010-12-08 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 38-41 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of Pavia, Pavia, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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