Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood

• Published in: American journal of medical genetics. Part C, Seminars in medical genetics Vol. 169C; no. 4; pp. 314 - 327
• Main Authors: Bronicki, Lucas M., Stevenson, Roger E., Spranger, Jürgen W.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.12.2015; Wiley Subscription Services, Inc
• Subjects: Bone and Bones - injuries; Bone Diseases, Developmental - diagnostic imaging; Bone Diseases, Developmental - genetics; Bone Diseases, Developmental - pathology; bone fragility; Child; Child, Preschool; Diagnosis, Differential; fractures; Fractures, Bone - etiology; Genetics; Humans; Infant; Musculoskeletal Abnormalities - diagnostic imaging; Musculoskeletal Abnormalities - genetics; Musculoskeletal Abnormalities - pathology; osteopenia; osteosclerosis; Radiography; skeletal dysplasias; osteopenia; osteosclerosis; bone fragility; fractures; skeletal dysplasias
• ISSN: 1552-4868; 1552-4876
• DOI: 10.1002/ajmg.c.31466

Fractures in infancy or early childhood require prompt evaluation with consideration of accidental or non‐accidental trauma as well as a large number of genetic disorders that predispose to fractures. Bone fragility has been reported in more than 100 genetic disorders, including skeletal dysplasias, inborn errors of metabolism and congenital insensitivity to pain. Most of these disorders are rare but often have distinctive clinical or radiographic findings to assist in the diagnosis. Gene sequencing is available, albeit connective tissue and skeletal dysplasia panels and biochemical studies are only helpful in a minority of cases. This article presents the clinical, radiographic, and molecular profiles of the most common heritable disorders other than osteogenesis imperfecta with increased bone fragility. In addition, the clinicians must consider non‐heritable influences such as extreme prematurity, prenatal viral infection and neoplasia in the diagnostic process. © 2015 Wiley Periodicals, Inc.