Document Detail


Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors.
MedLine Citation:
PMID:  15810008     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Duplications of organs and/or tissues are rare in morphogenesis and have frequently been attributed to incomplete twinning. To further elucidate the phenotypes associated with organ duplications, we present three infants with duplication of the pituitary gland (DPG). A review of previously reported cases with DPG showed that the commonest additional findings were hypothalamic enlargement, a broad or duplicated sella, cleft palate, hypertelorism, oropharyngeal tumors, agenesis or hypoplasia of the corpus callosum, and abnormalities of vertebrae. DPG and additional malformations constitute a distinct and recognizable pattern of anomalies, which may constitute a polytopic field defect due to splitting of the notochord. However, the precise inductive mechanism resulting in DPG remains unknown.
Authors:
Anne Slavotinek; Melissa Parisi; Carrie Heike; Anne Hing; Eric Huang
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  135     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-26     Completed Date:  2005-05-31     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  13-20     Citation Subset:  IM    
Copyright Information:
(c) 2005 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Division of Genetics, University of California-San Francisco, 553 Parnassus Street, Rm. U-585P, San Francisco, CA 94143, USA. slavotia@peds.ucsf.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology*
Child, Preschool
Cleft Palate / pathology*
Craniofacial Abnormalities / pathology*
Fatal Outcome
Female
Humans
Infant
Karyotyping
Male
Oropharyngeal Neoplasms / pathology*
Pituitary Gland / abnormalities*
Spine / abnormalities

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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