Open AccessSetre-Chotzen syndrome in an 8-year-old girl
Author(s) -
V. L. Kotov,
E. M. Meyerson,
V K Il'ina,
V. Ya. Bruskina
Publication year - 2022
Publication title -
vestnik travmatologii i ortopedii imeni n.n. priorova
Language(s) - English
Resource type - Journals
eISSN - 2658-6738
pISSN - 0869-8678
DOI - 10.17816/vto104842
Subject(s) - medicine , skull , girl , inheritance (genetic algorithm) , lesion , anatomy , pediatrics , surgery , biology , genetics , gene
Acrocephalosyndactyly (type III), or Saethre-Chotzen syndrome, according to the International Nomenclature of Hereditary Skeletal Diseases, belongs to the group of dysostoses, manifested by deformities of individual bones or their combinations, and is included in the subgroup of dysostoses with a primary lesion of the face and skull. The type of inheritance is autosomal dominant.