Saethre-Chotzen syndrome

Authors

  • Elayne Esther Santana Centro Provincial de Genética Médica de Holguín
  • Rafael Alfredo Llauradó Robles Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja. Holguín

Keywords:

CRANIOSYNOSTOSIS, ACROCEPHALOSYNDACTYLY, SYNOSTOSIS.

Abstract

The Saethre-Chotzen syndrome is among the hereditary craniosynostosis that is characterized by an early unilateral or bilateral synostosis of the coronal sutures, facial asymmetry, ptosis and sometimes strabismus. The case of a 10-year-old female patient is presented with craniostenosis provoking skull asymmetry, plagiocephaly and facial asymmetry with left palpebral ptosis. Because of the frequency of craniosynostosis, an early diagnosis is necessary to perform a timely intervention for an accurate treatment and multidisciplinary follow-up, in order to complete an adequate genetic counseling to these families.

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Author Biographies

Elayne Esther Santana, Centro Provincial de Genética Médica de Holguín

Máster en Atención Integrala al niño.

Especialista de I y II Grado en Medicina General Integral.

Especialista de I y II Grado en Genética Clínica.

Investigador Agregado.

Profesore Auxiliar


Rafael Alfredo Llauradó Robles, Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja. Holguín

Especialista de Segundo Grado en Pediatría. Profesor Consultante. Investigador Agregado.

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Published

2017-05-03

How to Cite

1.
Santana EE, Llauradó Robles RA. Saethre-Chotzen syndrome. Rev Ciencias Médicas [Internet]. 2017 May 3 [cited 2025 Aug. 1];21(2):271-6. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/2921

Issue

Vol. 21 No. 2 (2017)

Section

CASE REPORTS

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