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Short rib syndrome--Beemer type in sibs.
Am J Med Genet. 1991 Aug 01; 40(2):230-3.AJ

Abstract

The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. Two affected female sibs are described, one having a preaxial polydactyly of the feet. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia. Molecular biology may eventually prove whether the 2 conditions are truly separate entities or not.

Authors+Show Affiliations

Clinical Genetics Center Utrecht, The Netherlands.

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Review

Language

eng

PubMed ID

1897578

Citation

Hennekam, R C.. "Short Rib syndrome--Beemer Type in Sibs." American Journal of Medical Genetics, vol. 40, no. 2, 1991, pp. 230-3.
Hennekam RC. Short rib syndrome--Beemer type in sibs. Am J Med Genet. 1991;40(2):230-3.
Hennekam, R. C. (1991). Short rib syndrome--Beemer type in sibs. American Journal of Medical Genetics, 40(2), 230-3.
Hennekam RC. Short Rib syndrome--Beemer Type in Sibs. Am J Med Genet. 1991 Aug 1;40(2):230-3. PubMed PMID: 1897578.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short rib syndrome--Beemer type in sibs. A1 - Hennekam,R C, PY - 1991/8/1/pubmed PY - 1991/8/1/medline PY - 1991/8/1/entrez SP - 230 EP - 3 JF - American journal of medical genetics JO - Am J Med Genet VL - 40 IS - 2 N2 - The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. Two affected female sibs are described, one having a preaxial polydactyly of the feet. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia. Molecular biology may eventually prove whether the 2 conditions are truly separate entities or not. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1897578/Short_rib_syndrome__Beemer_type_in_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=40&issue=2&spage=230 DB - PRIME DP - Unbound Medicine ER -