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Macrostomia: a spectrum of deformity.
Ann Plast Surg. 2014 Mar; 72(3):363-8.AP

Abstract

BACKGROUND

Macrostomia is a rare facial cleft, with an incompletely described pathogenesis. This series highlights cases of isolated macrostomia presenting with several distinct phenotypes. We examine phenotypic differences in macrostomia patients, to further elucidate the etiopathogenesis.

MATERIALS AND METHODS

We performed a retrospective review of macrostomia patients evaluated during a 10-year period. Patient demographics and clinical features are reported.

RESULTS

We identified 25 macrostomia patients (13M/12F). Right-sided macrostomia occurred in 15, left-sided macrostomia occurred in 6, and bilateral macrostomia occurred in 4 patients. Of the bilateral cases, 100% existed in isolation of craniofacial microsomia (CFM) or other craniofacial abnormalities. Twelve patients presented with macrostomia in isolation of CFM; in this subgroup, the male-to-female ratio was 1:1. Bilateral macrostomia was present in 33% of patients. Unilateral macrostomia occurred more often on the right (5:2). Phenotypes included simple unilateral or bilateral macrostomia (67%), macrostomia associated with severe diastasis of the cheek musculature (8%), macrostomia associated with lateral facial clefts (17%), and diastasis of cheek musculature without significant macrostomia (8%).

CONCLUSIONS

Macrostomia seen in isolation of CFM presents in phenotypically distinct forms. It is unlikely that a single mechanism is responsible for this range of phenotypes. We believe that both intrauterine trauma and failure of fusion of the mandibular and maxillary processes secondary to an aberration in FGF8 function are responsible. Additionally, diastasis of facial musculature may result from delayed fusion and subsequent decreased mesodermal penetration of the mandibular and maxillary processes.

Authors+Show Affiliations

From 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.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23657042

Citation

Buonocore, Samuel, et al. "Macrostomia: a Spectrum of Deformity." Annals of Plastic Surgery, vol. 72, no. 3, 2014, pp. 363-8.
Buonocore S, Broer PN, Walker ME, et al. Macrostomia: a spectrum of deformity. Ann Plast Surg. 2014;72(3):363-8.
Buonocore, S., Broer, P. N., Walker, M. E., da Silva Freitas, R., Franco, D., & Alonso, N. (2014). Macrostomia: a spectrum of deformity. Annals of Plastic Surgery, 72(3), 363-8. https://doi.org/10.1097/SAP.0b013e31826aefdf
Buonocore S, et al. Macrostomia: a Spectrum of Deformity. Ann Plast Surg. 2014;72(3):363-8. PubMed PMID: 23657042.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Macrostomia: a spectrum of deformity. AU - Buonocore,Samuel, AU - Broer,P Niclas, AU - Walker,Marc E, AU - da Silva Freitas,Renato, AU - Franco,Diogo, AU - Alonso,Nivaldo, PY - 2013/5/10/entrez PY - 2013/5/10/pubmed PY - 2014/10/15/medline SP - 363 EP - 8 JF - Annals of plastic surgery JO - Ann Plast Surg VL - 72 IS - 3 N2 - BACKGROUND: Macrostomia is a rare facial cleft, with an incompletely described pathogenesis. This series highlights cases of isolated macrostomia presenting with several distinct phenotypes. We examine phenotypic differences in macrostomia patients, to further elucidate the etiopathogenesis. MATERIALS AND METHODS: We performed a retrospective review of macrostomia patients evaluated during a 10-year period. Patient demographics and clinical features are reported. RESULTS: We identified 25 macrostomia patients (13M/12F). Right-sided macrostomia occurred in 15, left-sided macrostomia occurred in 6, and bilateral macrostomia occurred in 4 patients. Of the bilateral cases, 100% existed in isolation of craniofacial microsomia (CFM) or other craniofacial abnormalities. Twelve patients presented with macrostomia in isolation of CFM; in this subgroup, the male-to-female ratio was 1:1. Bilateral macrostomia was present in 33% of patients. Unilateral macrostomia occurred more often on the right (5:2). Phenotypes included simple unilateral or bilateral macrostomia (67%), macrostomia associated with severe diastasis of the cheek musculature (8%), macrostomia associated with lateral facial clefts (17%), and diastasis of cheek musculature without significant macrostomia (8%). CONCLUSIONS: Macrostomia seen in isolation of CFM presents in phenotypically distinct forms. It is unlikely that a single mechanism is responsible for this range of phenotypes. We believe that both intrauterine trauma and failure of fusion of the mandibular and maxillary processes secondary to an aberration in FGF8 function are responsible. Additionally, diastasis of facial musculature may result from delayed fusion and subsequent decreased mesodermal penetration of the mandibular and maxillary processes. SN - 1536-3708 UR - https://www.unboundmedicine.com/medline/citation/23657042/Macrostomia:_a_spectrum_of_deformity_ L2 - https://doi.org/10.1097/SAP.0b013e31826aefdf DB - PRIME DP - Unbound Medicine ER -