Bone dysplasia.

Agnès Linglart, Valérie Merzoug, Anne-Sophie Lambert, Catherine Adamsbaum

Journal: Annales d'endocrinologie 2018;78(2):114-122

PMID: 28495326

Full Text on Elsevier Science View on PubMed

Abstract

Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features such as disproportionate trunk/limbs, short limbs or extremities and/or stocky build, (ii) radiographic features to analyze mineralization, maturation and bone morphology, and (iii) whenever possible, the genetic characterization. Bone dysplasia mostly affect many organs, and therefore require multidisciplinary follow-up and care. The role of the pediatric endocrinologist is to assess the growth potential of these patients in coordination with the other caregivers, offer the best management of the growth to limit the psychosocial consequences of the extreme short stature and bone deformities.

Address: Service d'endocrinologie et diabétologie pour enfants, centre de référence des maladies rares du métabolisme du calcium et du phosphate, plateforme d'expertise Paris Sud des maladies rares, filière OSCAR, hôpital Bicêtre Paris Sud, AP-HP, 94270 Le Kremlin-Bicêtre, France. Electronic address: [email protected].; Service de radiologie pédiatrique, plateforme d'expertise Paris Sud des maladies rares, filière OSCAR, Medical School, hôpital Bicêtre Paris Sud, Paris-Sud University, AP-HP, 94270 Le Kremlin-Bicêtre, France.; Service d'endocrinologie et diabétologie pour enfants, centre de référence des maladies rares du métabolisme du calcium et du phosphate, plateforme d'expertise Paris Sud des maladies rares, filière OSCAR, hôpital Bicêtre Paris Sud, AP-HP, 94270 Le Kremlin-Bicêtre, France.

DOI: 10.1016/j.ando.2017.04.011

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MeSH Terms: Body Height, Body Size, Bone Diseases, Developmental, Dwarfism, Growth Disorders, Humans, Osteochondrodysplasias, Rare Diseases