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Journal of Case Reports
Acrocephalosyndactyly Syndrome: Challenging Diagnosis

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Ada Paloma Soto Brambila1,2, Paloma Rivero Moragrega3, Ingrid Patricia Dávalos Rodríguez1,2, Juan Francisco Santoscoy Gutiérrez3
1División de Genética and 3División de Neurociencias, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social. Guadalajara, Mexico; 2Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara. Guadalajara, Mexico.
Corresponding Author:
Dr. Juan Francisco Santoscoy Gutiérrez
Email: f.santoscoygtz@gmail.com
Received: 21-FEB-2017 Accepted: 27-APR-2017 Published Online: 30-MAY-2017
DOI: http://dx.doi.org/10.17659/01.2017.0056
Introduction: Acrocephalosyndactyly syndromes are a specific group of the syndromic craniosynostosis characterized by cranial and limb abnormalities. There have been described different phenotypic variations that are classified as individual syndromes, these include: Saethre-Chotzen, Crouzon, Baller-Gerold, Apert, and Pfeiffer. Case Report: This case presents a 29-year-old male with the classic Saethre-Chotzen syndrome phenotype: bilateral coronal synostosis without intellectual disability, bilateral ptosis, low frontal hairline, small ears with prominent crus, and cutaneous syndactyly. Conclusion: To distinguish Saethre-Chotzen syndrome from its differential diagnosis it is essential to perform an adequate clinical evaluation and a comparison of the patient’s characteristics with the phenotypic features specific for each acrocephalosyndactyly syndrome. Molecular analysis can orientate towards the diagnosis, but the physical exam is still the primary diagnostic tool.
Keywords : Acrocephalosyndactylia, Congenital Microtia, Craniosynostoses, Skull, Syndrome.
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