Abstract
Two families are concerned, in both 2 children were affected of severe dwarfism with clinical and biological features usually noted in Laron's cases.
Family 1; Girl 19 year old. Height 125 cm, typical morphology and facies, mild mental retardation.
Boy 6 year old, height 0,82. Typical aspect of Laron's dwarf but also retarded and epileptic. Plasma HGH determinations gave high values at several times (30–40–60 ng/ml).
Family 2: Girl 18 year of age; height 123. Typical Laron's dwarf morphology and normal mental development. The boy, aged 16 years, height 120, showed the same features: Both had high plasma HGH levels (40–100 ng/ml). The two boys were treated by HGH therapy for several months without any effect. Before therapy plasma somatomedin ranged 40–60 and did not improve after HGH. Immunological, electrophoretical studies on plasma GH did not show any abnormality, compared with HGH standard. It is concluded that the 2 families were affected of a primary somatomedin generation deficiency.
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Pierson, M., Grignon, G., Malaprade, D. et al. PLASMA SOMATOMEDIN ACTIVITY IN FAMILIAL LARON'S DWARFISM. Pediatr Res 9, 673 (1975). https://doi.org/10.1203/00006450-197508000-00051
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DOI: https://doi.org/10.1203/00006450-197508000-00051