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Diagnostic dilemmas in the short rib - Polydactyly syndrome group

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dc.contributor.authorELÇİOĞLU, HURİYE NURSEL
dc.contributor.authorsElcioglu, NH; Hall, CM
dc.date.accessioned2022-03-12T17:01:49Z
dc.date.available2022-03-12T17:01:49Z
dc.date.issued2002
dc.description.abstractThe short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized by markedly short ribs, short limbs, usually polydactyly, and multiple anomalies of major organs. At least four types have been recognized. The radiological findings of 10 cases are presented. Each fetus or stiilbirth has some of the radiological features of the four established types of short rib-polydactyly syndrome and raises diagnostic dilemmas in differentiating these entities. The overlapping phenotypes of these fetuses supports the previously suggested hypothesis that the different subtypes of the short rib-polydactyly syndrome group are not single entities, but rather part of a continuous spectrum with variable expressivity. (C) 2002 Wiley-Liss, Inc.
dc.identifier.doi10.1002/ajmg.10562
dc.identifier.issn0148-7299
dc.identifier.pubmed12210298
dc.identifier.urihttps://hdl.handle.net/11424/227415
dc.identifier.wosWOS:000177560700008
dc.language.isoeng
dc.publisherWILEY-LISS
dc.relation.ispartofAMERICAN JOURNAL OF MEDICAL GENETICS
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectshort rib-polydactyly
dc.subjectasphyxiating thoracic dystophy
dc.subject(Jeune syndrome)
dc.subjectchondroectodermal dysplasia (Ellis-van
dc.subjectCreveld syndrome)
dc.subjectFACIAL-DIGITAL-SYNDROME
dc.subjectASPHYXIATING THORACIC DYSTROPHY
dc.subjectELLIS-VANCREVELD SYNDROME
dc.subjectCONTINUOUS-SPECTRUM
dc.subjectJEUNE SYNDROME
dc.subjectVERMA-NAUMOFF
dc.subjectDYSPLASIA
dc.subjectMOHR
dc.subjectPATIENT
dc.subjectINVERSION
dc.titleDiagnostic dilemmas in the short rib - Polydactyly syndrome group
dc.typearticle
dspace.entity.typePublication
local.avesis.idc98833d3-3f9a-4dcd-a333-d0911fc9de8b
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages9
oaire.citation.endPage400
oaire.citation.issue4
oaire.citation.startPage392
oaire.citation.titleAMERICAN JOURNAL OF MEDICAL GENETICS
oaire.citation.volume111
relation.isAuthorOfPublication07b24b61-ed29-42f4-80e5-5d78d14f5e90
relation.isAuthorOfPublication.latestForDiscovery07b24b61-ed29-42f4-80e5-5d78d14f5e90

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