Orthopaedic manifestations of campomelic dysplasia

Clin Orthop Relat Res. 2002 Aug:(401):65-74. doi: 10.1097/00003086-200208000-00010.

Abstract

Campomelic dysplasia is a rare form of congenital dwarfism associated with potentially fatal respiratory insufficiency. There are several types of campomelic dysplasia; however, it is characterized by the presence of anteriorly bowed tibias with cutaneous dimpling, anterolaterally bowed femurs, thoracic kyphoscoliosis, hypoplastic scapulas, and absence or delayed ossification of thoracic pedicles. With improving treatment of respiratory insufficiency, the survival rate of affected infants has increased, thereby necessitating treatment of the musculoskeletal malformations to prevent additional morbidity. In an attempt to increase awareness of the presentation of infants with campomelic dysplasia and to emphasize the difficulties of treating associated developmental dislocation of the hip early, the current authors report the case of a 2-year-old girl with campomelic dysplasia who was treated for dislocation of the right hip. The postoperative course of this child was complicated seriously by several apneic episodes secondary to tracheobronchial malacia for which she required admission to the pediatric intensive care unit.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Dwarfism* / complications
  • Dwarfism* / diagnosis
  • Dwarfism* / genetics
  • Dwarfism* / surgery
  • Female
  • Hip Dislocation, Congenital / complications
  • Hip Dislocation, Congenital / diagnostic imaging
  • Hip Dislocation, Congenital / therapy
  • Humans
  • Infant, Newborn
  • Radiography