Health Supervision for People With Achondroplasia

Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical complications associated with achondroplasia include lower extremity long bone bowing, middle-ear dysfunction, obstructive...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2020-06, Vol.145 (6), p.1
Main Authors: Hoover-Fong, Julie, Scott, Charles I, Jones, Marilyn C
Format: Article
Language:English
Subjects:
Achondroplasia
Apnea
Bone dysplasia
Cognition
Complications
Compression
Hydrocephalus
Hypoplasia
Kyphosis
Long bone
Macrocephaly
Patients
Pediatrics
Skeleton
Sleep
Sleep apnea
Sleep disorders
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Summary:Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical complications associated with achondroplasia include lower extremity long bone bowing, middle-ear dysfunction, obstructive sleep apnea, and, more rarely, cervicomedullary compression, hydrocephalus, thoracolumbar kyphosis, and central sleep apnea. This is the second revision to the original 1995 health supervision guidance from the American Academy of Pediatrics for caring for patients with achondroplasia. Although many of the previously published recommendations remain appropriate for contemporary medical care, this document highlights interval advancements in the clinical methods available to monitor for complications associated with achondroplasia. This document is intended to provide guidance for health care providers to help identify individual patients at high risk of developing serious sequelae and to enable intervention before complications develop.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2020-1010