Document Detail


Short rib polydactyly syndrome-Type I.
MedLine Citation:
PMID:  15107523     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography.
Authors:
S Sridhar; Ravi Kishore; Niranjan Thomas; Atanu Kumar Jana
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  71     ISSN:  0019-5456     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-04-26     Completed Date:  2004-06-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  359-61     Citation Subset:  IM    
Affiliation:
Department of Neonatology, Christian Medical College Hospital, Vellore, Tamil Nadu, India. neonatal@cmcvellore.ac.in
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MeSH Terms
Descriptor/Qualifier:
Consanguinity*
Fatal Outcome
Female
Fetal Death
Humans
Pregnancy
Pregnancy Outcome
Prenatal Diagnosis
Short Rib-Polydactyly Syndrome / diagnosis*

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


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