Published online August 31, 2005
PEDIATRICS Vol. 116 No. 3 September 2005, pp. 771-783 (doi:10.1542/peds.2005-1440)
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Right arrow Genetics & Dysmorphology

CLINICAL REPORT

Health Supervision for Children With Achondroplasia

Tracy L. Trotter, MD, Judith G. Hall, OC, MD and the Committee on Genetics

Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families.

Key Words: achondroplasia • short stature • children • health supervision

Abbreviations: OFC, occipital-frontal circumference • CT, computed tomography


The following policy statement has been revised:

Health Supervision for Children With Achondroplasia

Pediatrics 95: 443-451.