[Laron type familial dwarfism; genetic primary somatomedin deficiency]. 1978

M Pierson, and D Malaprade, and G Fortier, and F Belleville, and A Lasbennes, and L Wuilbereq

Five children from 3 different families presented with severe dwarfism and the morphological and biological features described by Laron: familial occurrence, small stature, peculiar facies, high levels of plasma HGH and resistance to treatment by GH. This therapeutic inefficiency is expressed by an absence of physical growth and unchanged nitrogen balance, during a prolonged treatment. The plasma levels of somatomedine were very low (K. Hall's biological method) and not influenced by administration of exogenous HGH. These findings suggest that the fundamental disorder is not an abnormal structure of the molecules of GH. This hypothesis seems further confirmed by the structural analysis of plasma HGH, which gave the same results as those of the reference GH.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D009584 Nitrogen An element with the atomic symbol N, atomic number 7, and atomic weight [14.00643; 14.00728]. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells.
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004351 Drug Resistance Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration. Resistance, Drug
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005260 Female Females

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