Syndrome of severe pituitary (hypophyseal) dwarfism which presents as proportionate short stature. Laron's syndrome resembles human growth hormone deficiency clinically but circulating blood growth hormone levels are increased rather than decreased, and somatomedin activity is low. Other features include hypoplasia of the base of the skull with small face and mandible, delayed closure of the fontanels, saddle nose, hypotrichosis, delayed dentition, tooth discoloration, crowding of defective teeth, high-pitched voice, acromicria, infantile genitalia, thin and underdeveloped muscle, and osteoporosis. Incidence higher in girls than in boys. Most common in children from the Middle East born to consanguineous parents. Inheritance is autosomal recessive.
In 1966 in Israel, Laron, Pertzelan and Mannheimer reported this genetic form of dwarfism in 3 Yemenite Jewish siblings with clinical and biochemical features of growth hormone deficiency, but with "abnormally high concentrations of immunoreactive serum growth hormone". Since then, some 250 patients have been identified worldwide
- Z. Laron, A. Pertzelan, S. Mannheimer:
Genetic pituitary dwarfism with high serum concentration of growth hormone - A new inborn error of metabolism?
Israel Journal of Medical Sciences, Tel Aviv, March-April 1966, 2(2): 152-1955.
- Z. Laron, A. Pertzelan, M. Karp:
Pituitary dwarfism with high serum levels of growth hormone.
Israel Journal of Medical Sciences, Tel Aviv, July-August 1968, 4(4): 883-894.
- Z. Laron:
Laron type dwarfism (hereditary somatomedin deficiency): a review.
In: P. Frick, G. A. von Harnack, G. A. Kochiek, A. Prader, editors: Advances in Internal Medicine and Pediatrics. Berlin-Heidelberg: Springer-Verlag, 1984: 117-150.
- R. Eshet, Z. Laron, A. Pertzelan, R. Amon, M. Dintzman:
Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism.
Israel Journal of Medical Sciences, Tel Aviv, 1984, 20(1): 8-11. Z. Laron, W. Blum, P. Chatelain, et al:
Classification of growth hormone insensitivity syndrome.
The Journal of Pediatrics, St. Louis, February 1993, 122(2): 241.
- Z. Laron:
Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome).
The Journal of Pediatric Endocrinology and Metabolism, April 1999, 12 Supplement 1: 231-249.