Acrocephalosyndactyly Syndrome: Challenging Diagnosis

[摘要] 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.

[学科分类] 生理学

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