Health Supervision for Children With Achondroplasia

Abstract

ABSTRACT. 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. Pediatrics 2005;116:771-783; achondroplasia, short stature, children, health supervision.

Development in children with achondroplasia: a prospective clinical cohort study

“…1 The primary biomechanical and anatomical differences seen in individuals with achondroplasia, which include marked limb shortening (more evident proximally than distally), macrocephaly, ligamentous laxity, and hypotonia, are known to contribute to developmental delays in motor skills, particularly during the first 2 years. [2][3][4][5][6][7] The delays seen in achievement of motor milestones indicate a clear need for achondroplasia-specific developmental trajectories against which to measure milestone attainment, allowing children to be compared directly with their peers. Three studies over the past 30 years have provided clinicians and families of children with achondroplasia with scattered, populationspecific developmental profiles across a range of gross motor, fine motor, feeding, and communication skills.…”

“…All children involved in this research were managed by clinicians who had access to the Health Supervision Guidelines for Children with Achondroplasia. 7,12 Recommendations made within the Health Supervision Guidelines when implemented in the clinical setting may have influenced the timing and age of acquisition of developmental milestones since the previous prospective study. 2 For example, restricted early sitting and the resulting increased time spent in the supine and prone positions may influence the timing of later milestone development, e.g.…”

A Three-Month-Old Achondroplastic Baby with both Obstructive Apneas and Central Apneas

“…9 The American Academy of Pediatrics recommends an initial evaluation with a thorough neurologic history, complete physical examination, neuroimaging, and polysomnography, with subsequent annual screening for hyperreflexia and sleep apnea. 1 No specific recommendations are given regarding home apnea monitors.…”

“…Physical exam revealed an alert playful baby with macrocephaly, head circumference of 44 cm (50% percentile achondroplasia chart) 1 ; mid-face hypoplasia; and large anterior and posterior fontanelles. Upper airway was Mallampati IV with 2+ tonsillar enlargement.…”

Severe pneumonia leading to death in an achondroplasic infant: a rare case report

“…This disorder is characterized by frontal bossing, midface hypoplasia, otolaryngeal system dysfunction, and rhizomelic short stature. 1 Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20000-30000 liveborn infants. It is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their families.…”