Document Detail


Phenotypic variability of Pai syndrome: report of two patients and review of the literature.
MedLine Citation:
PMID:  18657395     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.
Authors:
F Vaccarella; A Pini Prato; A Fasciolo; M Pisano; C Carlini; P L Seymandi
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2008-07-25
Journal Detail:
Title:  International journal of oral and maxillofacial surgery     Volume:  37     ISSN:  0901-5027     ISO Abbreviation:  Int J Oral Maxillofac Surg     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-11-10     Completed Date:  2009-02-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8605826     Medline TA:  Int J Oral Maxillofac Surg     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  1059-64     Citation Subset:  D; IM    
Affiliation:
Department of Pediatric Surgery, Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo, Ospedale Infantile, Spalto Marengo, Alessandria, Italy.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / surgery*
Bone Diseases, Developmental / complications,  surgery*
Child, Preschool
Cleft Lip / complications,  surgery*
Female
Humans
Infant
Infant, Newborn
Labial Frenum / abnormalities,  surgery
Nasal Cartilages / abnormalities*,  surgery
Nasal Polyps / complications,  surgery*
Nasal Septum / abnormalities*,  surgery
Nose / abnormalities,  surgery
Syndrome
Treatment Outcome

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