Document Detail


Paternal uniparental disomy 14: introducing the "coat-hanger" sign.
MedLine Citation:
PMID:  12712270     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias. Skin biopsy confirmed the clinical diagnosis of congenital cutis laxa, but this did not explain the limb abnormalities. Radiographic findings (particularly the "coat-hanger" configuration of the ribs on the chest radiograph), suggested a diagnosis of patUPD14, which was confirmed following DNA analysis. The patient died after prolonged respiratory failure. This combination of patUPD14 and congenital cutis laxa has not previously been described. Radiology can play a pivotal role in guiding the geneticist's choice of investigation.
Authors:
Amaka C Offiah; Luc Cornette; Christine M Hall
Publication Detail:
Type:  Journal Article; Review     Date:  2003-04-24
Journal Detail:
Title:  Pediatric radiology     Volume:  33     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-06-23     Completed Date:  2003-11-18     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  509-12     Citation Subset:  IM    
Affiliation:
Institute of Child Health, 30 Guilford Street, London, UK. amaka.offiah@gosh.nhs.uk
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  radiography
Adult
Chromosomes, Human, Pair 14 / genetics*
Cutis Laxa / congenital*,  genetics
Female
Humans
Infant, Newborn
Male
Pregnancy
Ribs / abnormalities,  radiography*
Uniparental Disomy / genetics*

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


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