Setre-Chotzen syndrome in an 8-year-old girl

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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.

作者简介

V. Kotov

Central Institute of Traumatology and Orthopedics named after N.N. Priorov

编辑信件的主要联系方式.
Email: info@eco-vector.com
俄罗斯联邦, Moscow

E. Meyerson

Central Institute of Traumatology and Orthopedics named after N.N. Priorov

Email: info@eco-vector.com
俄罗斯联邦, Moscow

V. Il'ina

Central Institute of Traumatology and Orthopedics named after N.N. Priorov

Email: info@eco-vector.com
俄罗斯联邦, Moscow

V. Bruskina

Central Institute of Traumatology and Orthopedics named after N.N. Priorov

Email: info@eco-vector.com
俄罗斯联邦, Moscow

参考

  1. Bartsocas C.S., Weber A.L., Crawford J.D. //J. Pediat.1970. — Vol. 77. — P. 267-269.
  2. Friedman J.M., Hanson J.W., Graham C.B., Smith D.W. //J. Pediat. — 1977. — Vol. 91. — P. 929-933.
  3. Ghouzzi V., Lajeunie E., Merrer M. et al. //Int. skeletal dysplasia meeting, 3rd: Abstracts. — Marina Del Rey, 1997. — P. 18.
  4. Kreiborg S., Pruzansky S., Pashayan H. //Teratology.1972. — N 6. — P. 287-288.
  5. Muenke M. //Int. skeletal dysplasia meeting, 3rd: Abstracts. — Marina Del Rey, 1997. — P. 18.

补充文件

附件文件
动作
1. JATS XML
2. Patient B., 8 years old, with Setre-Chotzen syndrome.

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