What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer

Janet M Legare; Donald Basel

doi:10.3389/fped.2023.1229666

What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer

Front Pediatr. 2023 Aug 22:11:1229666. doi: 10.3389/fped.2023.1229666. eCollection 2023.

Authors

Janet M Legare¹, Donald Basel²

Affiliations

¹ Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.
² Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, United States.

Abstract

Children with skeletal dysplasia are frequently referred to pediatric endocrinologists due to short stature. These children may present with disproportionate growth or medical histories that point to a skeletal dysplasia. This primer will discuss when to be concerned about skeletal dysplasia, the initial steps in evaluation for a skeletal dysplasia, and new therapies that are either recently approved or in development.

Keywords: achondroplasia; hypochondroplasia; hypophosphatasia; osteogenesis imperfecta; short stature; skeletal dysplasia.

Publication types

Review