Optic nerve findings in CHILD syndrome

J Pediatr Ophthalmol Strabismus. 2010 Sep 22:47 Online:e1-3. doi: 10.3928/01913913-20100920-06.

Abstract

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The authors present the first report of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child, Preschool
  • Female
  • Genetic Diseases, X-Linked / diagnosis*
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis*
  • Limb Deformities, Congenital / diagnosis*
  • Magnetic Resonance Imaging
  • Optic Atrophies, Hereditary / diagnosis*

Supplementary concepts

  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects