| Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum. | |
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MedLine Citation:
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PMID: 18369643 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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INTRODUCTION: Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded. DISCUSSION: A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum. |
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Authors:
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S Savasta; S Chiapedi; S Perrini; E Tognato; L Corsano; A Chiara |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-03-28 |
Journal Detail:
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Title: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery Volume: 24 ISSN: 0256-7040 ISO Abbreviation: Childs Nerv Syst Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-06 Completed Date: 2008-09-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8503227 Medline TA: Childs Nerv Syst Country: Germany |
Other Details:
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Languages: eng Pagination: 773-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Fondazione Policlinico S.Matteo IRCCS, Univesity of Pavia, P.le Golgi, 2, 27100 Pavia, Italy. s.savasta@smatteo.pv.it |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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etiology,
pathology* Central Nervous System Neoplasms / complications* Corpus Callosum / abnormalities* Female Humans Infant Lipoma / complications* Magnetic Resonance Imaging Nose Diseases / complications* Syndrome |
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