Progressive osseous heteroplasia

Abstract

The Journal of Bone and Joint Surgery. British volumeVol. 80-B, No. 5 PaediatricFree AccessProgressive osseous heteroplasiaREPORT OF A FAMILYJ. A. Urtizberea, H. Testart, F. Cartault, L. Boccon-Gibod, M. Le Merrer, F. S. KaplanJ. A. UrtizbereaConsultation MyogèneService de Génétique Médicale, Hôpital Necker, 149 rue de Sèvres, 75015 Paris, France.Search for more papers by this author, H. TestartHôpital d’Enfants, 60 rue Bertin, 97400 St Denis de la Réunion, France.Search for more papers by this author, F. CartaultLaboratoire de Génétique, CHD Felix Guyon, 97400 St Denis de la Réunion, France.Search for more papers by this author, L. Boccon-GibodLaboratoire d’Anatomie Pathologique, Hôpital Trousseau, 75012 Paris, France.Search for more papers by this author, M. Le MerrerService de Génétique Médicale, Hôpital Necker, 149 rue de Sèvres, 75015 Paris, France.Search for more papers by this author, F. S. KaplanUniversity of Pennsylvania Medical Centre, 3400 Spruce Street, Silver-stein Two, Philadelphia, Pennsylvania 19104-4283, USA.Search for more papers by this authorPublished Online:1 Sep 1998https://doi.org/10.1302/0301-620X.80B5.0800768AboutSectionsPDF/EPUB ToolsAdd to FavouritesDownload CitationsTrack CitationsPermissions ShareShare onFacebookTwitterLinked InRedditEmail AbstractWe 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.FiguresReferencesRelatedDetailsCited ByCase Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia23 June 2021 | Frontiers in Pediatrics, Vol. 9Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men14 December 2020 | Biomedicines, Vol. 8, No. 12Fibrodysplasie ossifiante progressive et hétéroplasie ossifiante progressiveRevue du Rhumatisme Monographies, Vol. 86, No. 1Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement29 June 2018 | Nature Reviews Endocrinology, Vol. 14, No. 8Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophyJournal of Pediatric Endocrinology and Metabolism, Vol. 28, No. 7-8Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in HumansThe Journal of Clinical Endocrinology & Metabolism, Vol. 95, No. 6PProgressive Osseous Heteroplasia. A Case Report and Review of the LiteratureJournal of Pediatric Orthopaedics, Part B, Vol. 11, No. 4 Vol. 80-B, No. 5 Metrics History Published online 1 September 1998 Published in print 1 September 1998 InformationCopyright © 1998, The British Editorial Society of Bone and Joint Surgery: All rights reservedPDF download