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[Hay-Wells syndrome: A case report].

L Khalfi1, J Hamama1, L Mahroug1

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Summary

Hay-Wells syndrome, a rare ectodermal dysplasia, presents with distinct facial features and cleft palate. This case highlights successful surgical repair and emphasizes maxillofacial manifestations.

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Area of Science:

  • Genetics
  • Craniofacial Surgery
  • Pediatric Medicine

Background:

  • Hay-Wells syndrome is a rare ectodermal dysplasia characterized by specific facial anomalies.
  • Early diagnosis and management are crucial for improving patient outcomes.

Observation:

  • A 5-year-old girl presented with facial dysmorphia and a cleft palate, consistent with Hay-Wells syndrome.
  • Molecular analysis confirmed the diagnosis of Hay-Wells syndrome.

Findings:

  • The patient underwent successful Veau-Wardill-Kilner palatoplasty for cleft palate repair.
  • Maxillofacial manifestations were detailed, supported by a comprehensive literature review.

Implications:

  • This case underscores the importance of recognizing maxillofacial signs in Hay-Wells syndrome.
  • Effective surgical intervention can significantly improve functional and aesthetic outcomes for affected children.