Jad G. Sfeir, Anupam Kotwal, Daniel L. Hurley

Research output: Chapter in Book/Report/Conference proceedingChapter


Osteochondrodysplasias, or skeletal dysplasias, are a rare group of genetically and phenotypically heterogeneous disorders. Most are apparent or suspected at birth or early childhood. Early classification systems relied on micro- and macroscopic features of these disorders. More recently, improved understanding of the molecular and genetic basis of metabolic bone diseases has led not only to an improved classification but, more importantly, to a better understanding of the etiology of some of these diseases and in some cases targeted therapy. Accurate and timely identification of these disorders is essential in order to support healthy skeletal development, when feasible, and to screen for associated disorders. A multidisciplinary approach to patients with skeletal dysplasias with experts knowledgeable in such disorders is equally important to achieve the best possible patient outcomes.

Original languageEnglish (US)
Title of host publicationMetabolic Bone Diseases
Subtitle of host publicationA Case-Based Approach
PublisherSpringer International Publishing
Number of pages52
ISBN (Electronic)9783030036942
ISBN (Print)9783030036935
StatePublished - Jan 1 2019
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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