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Diagnostic dilemmas in the short rib-polydactyly syndrome group.
Am J Med Genet. 2002 Sep 01; 111(4):392-400.AJ

Abstract

The 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 stillbirth 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.

Authors+Show Affiliations

Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey.No affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12210298

Citation

Elçioglu, Nursel H., and Christine M. Hall. "Diagnostic Dilemmas in the Short Rib-polydactyly Syndrome Group." American Journal of Medical Genetics, vol. 111, no. 4, 2002, pp. 392-400.
Elçioglu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. Am J Med Genet. 2002;111(4):392-400.
Elçioglu, N. H., & Hall, C. M. (2002). Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111(4), 392-400.
Elçioglu NH, Hall CM. Diagnostic Dilemmas in the Short Rib-polydactyly Syndrome Group. Am J Med Genet. 2002 Sep 1;111(4):392-400. PubMed PMID: 12210298.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnostic dilemmas in the short rib-polydactyly syndrome group. AU - Elçioglu,Nursel H, AU - Hall,Christine M, PY - 2002/9/5/pubmed PY - 2003/2/11/medline PY - 2002/9/5/entrez SP - 392 EP - 400 JF - American journal of medical genetics JO - Am J Med Genet VL - 111 IS - 4 N2 - The 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 stillbirth 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12210298/Diagnostic_dilemmas_in_the_short_rib_polydactyly_syndrome_group_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=111&issue=4&spage=392 DB - PRIME DP - Unbound Medicine ER -