Somatomedin C deficiency in Asian sisters

Arch Dis Child. 1986 Dec;61(12):1233-5. doi: 10.1136/adc.61.12.1233.

Abstract

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / blood
  • Child, Preschool
  • Dwarfism / blood
  • Dwarfism / genetics*
  • Female
  • Humans
  • Infant
  • Insulin-Like Growth Factor Binding Proteins
  • Insulin-Like Growth Factor I / deficiency*
  • Somatomedins / deficiency*

Substances

  • Carrier Proteins
  • Insulin-Like Growth Factor Binding Proteins
  • Somatomedins
  • Insulin-Like Growth Factor I