Occipital Horn syndrome in a 2-year-old boy

Clin Dysmorphol. 1999 Jul;8(3):179-83.

Abstract

The clinical presentation of Occipital Horn syndrome, a rare X-linked recessive condition, in a 2-year-old boy is described. This is the youngest patient reported so far. The major clinical, pathophysiological and molecular aspects of this condition are summarized.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Carrier Proteins / genetics
  • Cation Transport Proteins*
  • Clavicle / diagnostic imaging
  • Copper-Transporting ATPases
  • Cutis Laxa / genetics
  • Cutis Laxa / pathology*
  • Genetic Linkage
  • Humans
  • Infant
  • Joints / physiopathology
  • Male
  • Radiography
  • Recombinant Fusion Proteins*
  • Skull / diagnostic imaging
  • X Chromosome

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • Recombinant Fusion Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases