Skeletal dysplasias are a heterogeneous group of inheritable disorders that impair growth in children and affect multiple organ systems. These conditions present in infancy and require lifelong treatment for a variety of conditions. As a result, patients with skeletal dysplasia see multiple subspecialists, and finding both appropriate and comprehensive care is often challenging. Some skeletal dysplasias are relatively common and easier to manage; others are exceedingly rare. Finding appropriate specialists with the necessary expertise in managing the disease and associated comorbidities can take significant time and effort. Therefore, it is crucial to develop a team of specialists within a tertiary care center who can address all needs of patients with skeletal dysplasia.

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Introduction and Overview

  • Lynda Arai,
  • Vanessa A. Olbrecht,
  • Mary C. Theroux

摘要

Skeletal dysplasias are a heterogeneous group of inheritable disorders that impair growth in children and affect multiple organ systems. These conditions present in infancy and require lifelong treatment for a variety of conditions. As a result, patients with skeletal dysplasia see multiple subspecialists, and finding both appropriate and comprehensive care is often challenging. Some skeletal dysplasias are relatively common and easier to manage; others are exceedingly rare. Finding appropriate specialists with the necessary expertise in managing the disease and associated comorbidities can take significant time and effort. Therefore, it is crucial to develop a team of specialists within a tertiary care center who can address all needs of patients with skeletal dysplasia.