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Progressive osseous heteroplasia. Report of a family.
J Bone Joint Surg Br 1998; 80(5):768-71JB

Abstract

We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isolated dermal ossification is present in her father and younger sister suggesting an autosomal dominant mode of inheritance with variable expressivity or possible somatic mosaicism. This report of a family with progressive osseous heteroplasia contributes to the understanding of this uncommon genetic disorder, which must be distinguished from fibrodysplasia ossificans progressiva and Albright's hereditary osteodystrophy. The paucity of familial cases of progressive osseous heteroplasia currently limits the use of a genome-wide linkage analysis, but linkage exclusion analysis with promising candidate genes is a possibility.

Authors+Show Affiliations

Hôpital d'Enfants, St Denis de la Réunion, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9768883

Citation

Urtizberea, J A., et al. "Progressive Osseous Heteroplasia. Report of a Family." The Journal of Bone and Joint Surgery. British Volume, vol. 80, no. 5, 1998, pp. 768-71.
Urtizberea JA, Testart H, Cartault F, et al. Progressive osseous heteroplasia. Report of a family. J Bone Joint Surg Br. 1998;80(5):768-71.
Urtizberea, J. A., Testart, H., Cartault, F., Boccon-Gibod, L., Le Merrer, M., & Kaplan, F. S. (1998). Progressive osseous heteroplasia. Report of a family. The Journal of Bone and Joint Surgery. British Volume, 80(5), pp. 768-71.
Urtizberea JA, et al. Progressive Osseous Heteroplasia. Report of a Family. J Bone Joint Surg Br. 1998;80(5):768-71. PubMed PMID: 9768883.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Progressive osseous heteroplasia. Report of a family. AU - Urtizberea,J A, AU - Testart,H, AU - Cartault,F, AU - Boccon-Gibod,L, AU - Le Merrer,M, AU - Kaplan,F S, PY - 1998/10/13/pubmed PY - 1998/10/13/medline PY - 1998/10/13/entrez SP - 768 EP - 71 JF - The Journal of bone and joint surgery. British volume JO - J Bone Joint Surg Br VL - 80 IS - 5 N2 - We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isolated dermal ossification is present in her father and younger sister suggesting an autosomal dominant mode of inheritance with variable expressivity or possible somatic mosaicism. This report of a family with progressive osseous heteroplasia contributes to the understanding of this uncommon genetic disorder, which must be distinguished from fibrodysplasia ossificans progressiva and Albright's hereditary osteodystrophy. The paucity of familial cases of progressive osseous heteroplasia currently limits the use of a genome-wide linkage analysis, but linkage exclusion analysis with promising candidate genes is a possibility. SN - 0301-620X UR - https://www.unboundmedicine.com/medline/citation/9768883/Progressive_osseous_heteroplasia__Report_of_a_family_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=9768883.ui DB - PRIME DP - Unbound Medicine ER -