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Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia).
Am J Med Genet. 1983 Feb; 14(2):373-80.AJ

Abstract

We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal dysplasia. Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples. A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo. Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting all cases is important for further nosologic and pathogenetic elucidation. Because of the severity of the femoral involvement, the condition has been called kyphomelic dysplasia. It may be an autosomal recessive trait. recessive trait.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6837632

Citation

Maclean, R N., et al. "Brief Clinical Report: Skeletal Dysplasia With Short, Angulated Femora (kyphomelic Dysplasia)." American Journal of Medical Genetics, vol. 14, no. 2, 1983, pp. 373-80.
Maclean RN, Prater WK, Lozzio CB. Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). Am J Med Genet. 1983;14(2):373-80.
Maclean, R. N., Prater, W. K., & Lozzio, C. B. (1983). Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). American Journal of Medical Genetics, 14(2), 373-80.
Maclean RN, Prater WK, Lozzio CB. Brief Clinical Report: Skeletal Dysplasia With Short, Angulated Femora (kyphomelic Dysplasia). Am J Med Genet. 1983;14(2):373-80. PubMed PMID: 6837632.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). AU - Maclean,R N, AU - Prater,W K, AU - Lozzio,C B, PY - 1983/2/1/pubmed PY - 1983/2/1/medline PY - 1983/2/1/entrez SP - 373 EP - 80 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 14 IS - 2 N2 - We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal dysplasia. Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples. A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo. Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting all cases is important for further nosologic and pathogenetic elucidation. Because of the severity of the femoral involvement, the condition has been called kyphomelic dysplasia. It may be an autosomal recessive trait. recessive trait. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6837632/Brief_clinical_report:_skeletal_dysplasia_with_short_angulated_femora__kyphomelic_dysplasia__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=14&issue=2&spage=373 DB - PRIME DP - Unbound Medicine ER -