Мать и дитя в Кузбассе (Nov 2022)
A CLINICAL CASE OF LARON SYNDROME IN THREE SIBLINGS
Abstract
Laron syndrome (Laron dwarfism) is a rare genetic disease with an autosomal recessive type of inheritance caused by defects in the somatotropic hormone receptor gene (GHR gene), leading to insensitivity of peripheral tissues to growth hormone. Typical manifestations include low height, "doll face", overweight. Currently, the number of patients worldwide is about 350. This article describes a case of Laron syndrome in three children from the same family.