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1030 A Case of Rhizomelic Chondrodysplasia Punctata in Newborn
  1. N Karabayir,
  2. G Keskindemieci,
  3. E Adal,
  4. O Korkmaz
  1. Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey

Abstract

Rhizomelic chondrodysplasia punctata is an rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications in the metaphysis and epiphysis of long bones and the thoracic and lumbar vertebrae, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as rhizomelic chondroplasia punctata with cervical stenosis. As far as we know, our case is the first case of autosomal recessive form with a cervical spinal stenosis detected in the neonatal period.

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