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Published on: November 4, 2025
Macrostomia: a spectrum of deformity
Samuel Buonocore1, P Niclas Broer, Marc E Walker
1From the *Section of Plastic and Reconstructive Surgery, Department of Surgery, Yale University School of Medicine, New Haven, CT; †Plastic and Reconstructive Surgery Unit, Federal University of Paraná; ‡Assistance Center for Cleft Lip and Palate, Curitiba, Parana; §Plastic Surgery Center of the Federal University of Rio de Janeiro, Rio de Janeiro; and ∥The Craniofacial Surgery Unit, Department of Plastic Surgery, São Paulo University, São Palo, Brazil.
Macrostomia, a rare facial cleft, presents with diverse phenotypes, suggesting multiple causes. Isolated cases indicate intrauterine trauma or abnormal FGF8 function impacting facial development.
Area of Science:
- Craniofacial development
- Medical genetics
- Pediatric surgery
Background:
- Macrostomia is a rare congenital facial cleft with poorly understood origins.
- This study investigates distinct phenotypes of isolated macrostomia to clarify its etiopathogenesis.
Observation:
- A retrospective review identified 25 macrostomia patients over 10 years.
- Phenotypes varied, including simple clefts, cheek musculature diastasis, and lateral facial clefts.
- Bilateral macrostomia cases were exclusively isolated, unlike unilateral presentations.
Findings:
- Isolated macrostomia exhibits diverse phenotypes, challenging a single etiological mechanism.
- Right-sided macrostomia was more common than left-sided.
- Cheek musculature diastasis and lateral facial clefts represent less common presentations.
Implications:
- The varied phenotypes suggest multifactorial causes, including intrauterine trauma and aberrant FGF8 gene function.
- Delayed fusion of mandibular and maxillary processes may lead to facial musculature diastasis.
- Understanding these distinct forms is crucial for accurate diagnosis and targeted management of macrostomia.
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