Spondylometaepiphyseal dysplasia of Kozlowski type

Authors

  • Elayne Esther Santana Hernández Centro Provincial de Genética Médica. Holguín.
  • Víctor Jesús Tamayo Chang Centro Provincial de Genética Médica. Holguín.

Keywords:

FIBROUS DYSPLASIA OF BONE, OSTEOCHONDRODYSPLASIAS.

Abstract

Kozlowski spondylometaepiphyseal dysplasia (SMED) is a type of bone dysplasia, which is included in a group of disorders that primarily affects the metaphysis of tubular bones, mostly the vertebral column. It is characterized by alterations of diverse severity at the level of the vertebrae, with an autosomal dominant pattern of heredity. This study presents a case assessed in the office of clinical genetics with short height, thoracic deformity and radiographic abnormalities in the vertebral column with irregular metaphysis. A bibliographic review was carried out and radiographs were studied, what determined the clinical diagnosis of this condition. Appropriate genetic counseling to the family was given.

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Author Biographies

Elayne Esther Santana Hernández, Centro Provincial de Genética Médica. Holguín.

Especialista de Segundo Grado en Medicina General Integral y Genética Clínica. Máster en Atención Integral al Niño. Investigador Agregado.

Porfesor Auxiliar. Universidad de Ciencias Médicas "Mariana Grajales Coello". Holguín.

Víctor Jesús Tamayo Chang, Centro Provincial de Genética Médica. Holguín.

Especialista de Segundo Grado en Medicina General Integral y Genética Clínica. Máster en Atención Integral al Niño. Investigador Agregado.

Porfesor Auxiliar. Universidad de Ciencias Médicas "Mariana Grajales Coello". Holguín.

References

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Published

2016-12-21

How to Cite

1.
Santana Hernández EE, Tamayo Chang VJ. Spondylometaepiphyseal dysplasia of Kozlowski type. Rev. electron. Zoilo [Internet]. 2016 Dec. 21 [cited 2025 Oct. 10];41(12). Available from: https://revzoilomarinello.sld.cu/index.php/zmv/article/view/939

Issue

Vol. 41 No. 12 (2016): December

Section

Case reports

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