-
European Journal of Paediatric Dentistry Feb 2023Macrostomia, or lateral cleft lip, which is known as Tessier cleft type 7, is one of the rarest facial anomalies. The purpose of this review is to describe the main... (Review)
Review
AIM
Macrostomia, or lateral cleft lip, which is known as Tessier cleft type 7, is one of the rarest facial anomalies. The purpose of this review is to describe the main characteristics, epidemiology, aetiology and treatment of this anomaly.
METHODS
We present an overview of surgical techniques as well as a review of all 36 cases of bilateral asyndromic macrostomia reported to this da in the literature. Furthermore, we report the case of a 4-month male infant with bilateral transverse cleft lip and analyse the treatment decision and the procedure itself.
CONCLUSION
Early diagnosis and surgical intervention are crucial in treating children with these malformations. Adequate timely reconstruction plays a main role in both physical and psychological rehabilitation.
Topics: Child; Infant; Humans; Male; Cleft Lip; Macrostomia
PubMed: 36853212
DOI: 10.23804/ejpd.2023.24.01.10 -
The Journal of Craniofacial Surgery Sep 2018Macrostomia (Tessier's 7 cleft) is a rare congenital lip deformity. Macrostomia can occur unilateral or bilateral, isolated or associated with other syndromes. Isolated...
Macrostomia (Tessier's 7 cleft) is a rare congenital lip deformity. Macrostomia can occur unilateral or bilateral, isolated or associated with other syndromes. Isolated bilateral macrostomia is exceedingly rare with only a few cases reported to date. The authors report 6 cases of isolated bilateral macrostomia surgically repaired in 4-layered approaches. The traditional method was improved and the result obtained was satisfactory after longest follow-up of 3 years. The technique is easy to imitate, simple in design, aesthetically and functionally corrects the deformity.
Topics: Child, Preschool; Female; Humans; Infant; Macrostomia; Male; Mouth Mucosa; Oral Surgical Procedures; Plastic Surgery Procedures; Surgical Flaps
PubMed: 29742578
DOI: 10.1097/SCS.0000000000004621 -
Journal of Stomatology, Oral and... Jun 2022Macrostomia or lateral cleft lip is a rare congenital deformity. In this article we describe a surgical technique of macrostomia repair developed. The objective of this...
BACKGROUND
Macrostomia or lateral cleft lip is a rare congenital deformity. In this article we describe a surgical technique of macrostomia repair developed. The objective of this article is to assess the results of our surgical technique and to validate a method for macrostomia surgical result evaluation.
METHODS
We included retrospectively patients with unilateral and bilateral macrostomia, operated from 1995 to 2014 in our department. First part of the study was a satisfaction questionnaire completed by patients. The second part was subjective evaluation of frontal photography (closed mouth, wide open and smiling) by surgeons and lay people with a questionnaire. Both group completed a second questionnaire within one to six months.
RESULTS
Eighteen patients answered the questionnaire. The satisfaction for all patients were considered as very good for 38.9% (n = 7) of patients and good for 44.4% (n = 8). 21 patients were photographed, 5 isolated macrostomia, 13 macrostomia with minor facial asymmetry and 3 with a major asymmetry. Surgeons evaluated the result as very good for isolated macrostomia and good for syndromic macrostomia. Layperson evaluated the result as good in isolated macrostomia and macrostomia with minor facial asymmetry and average with major facial asymmetry. P < 0.0001. The evolution of the results between medical and non-medical assessors in our two questionnaires, were non-significant.
CONCLUSION
In this study, we propose a new methodology to assess commissuroplasty surgical results, with a 3 type of evaluator: patients, surgeons and laypeople. We present a simple surgical technique, that allows good results in syndromic and isolated macrostomia.
Topics: Cleft Lip; Esthetics; Facial Asymmetry; Humans; Macrostomia; Retrospective Studies
PubMed: 34224921
DOI: 10.1016/j.jormas.2021.06.018 -
Annals of Plastic Surgery Mar 2014Macrostomia is a rare facial cleft, with an incompletely described pathogenesis. This series highlights cases of isolated macrostomia presenting with several distinct...
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.
Topics: Abnormalities, Multiple; Adolescent; Brazil; Child, Preschool; Craniofacial Abnormalities; Ear, External; Female; Follow-Up Studies; Goldenhar Syndrome; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Infant; Macrostomia; Male; Mandible; Mandibular Condyle; Phenotype; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 23657042
DOI: 10.1097/SAP.0b013e31826aefdf -
Cirugia Pediatrica : Organo Oficial de... Jan 2016The macrostomia is a facial abnormality also called transverse facial cleft or Tessier cleft number 7. Macrostomia is a rare condition with an incidence from 1/80,000 to... (Review)
Review
INTRODUCTION
The macrostomia is a facial abnormality also called transverse facial cleft or Tessier cleft number 7. Macrostomia is a rare condition with an incidence from 1/80,000 to 1/300,000 live births. The left commisure is more commonly affected. Bilateral macrostomia is extremely rare, with only 10 to 20% of all cases of macrostomia, and 50% of bilateral cases are associated with different syndromes. To date just over 20 cases of isolated bilateral macrostomia have been described in the literature.
CLINICAL OBSERVATION
We report the case of a patient with isolated bilateral macrostomia solved by surgery and with good aesthetic and functional results.
COMMENTS
The treatment of bilateral macrostomia is surgical and should be done early. Although there are many techniques, the key is to recreate a new and correct commisure through a good reorientation of the orbicularis oris.
Topics: Humans; Macrostomia
PubMed: 27911070
DOI: No ID Found -
American Journal of Medical Genetics.... Aug 2016Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a... (Meta-Analysis)
Meta-Analysis Review
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16 with AMS. Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flaring alae nasi, protruding maxilla, wide mouth, thin upper vermillion, and attached ear lobes. In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely that with time it can be concluded that BSS. AMS and Setleis syndrome form a continuum. © 2016 Wiley Periodicals, Inc.
Topics: Abnormalities, Multiple; Eye Abnormalities; Eyelid Diseases; Facies; Genetic Association Studies; Genotype; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Macrostomia; Mutation; Phenotype; Skin Abnormalities; Twist-Related Protein 2
PubMed: 27196381
DOI: 10.1002/ajmg.a.37757 -
BMJ Case Reports Jul 2013Macrostomia as a rare facial deformity is classified among facial clefts. It is a rare congenital anomaly which affects the aesthetics and function of the oral cavity....
Macrostomia as a rare facial deformity is classified among facial clefts. It is a rare congenital anomaly which affects the aesthetics and function of the oral cavity. It is usually associated with deformities of other structures developed from the first and second branchial arches. Bilateral transverse cleft occurring alone is uncommon. Here we report a case of bilateral macrostomia (bilateral lip cleft) in a 5-year-old girl as a sole entity without other skeletal and facial deformities.
Topics: Child, Preschool; Female; Humans; Macrostomia
PubMed: 23884979
DOI: 10.1136/bcr-2013-010429 -
Facial Plastic Surgery & Aesthetic... 2022Most of the characteristic facial features of patients with unilateral macrostomia are attributed to the malformation of commissure muscles. This study aimed to...
Most of the characteristic facial features of patients with unilateral macrostomia are attributed to the malformation of commissure muscles. This study aimed to evaluate a modified surgical treatment for such patients that focuses on both appearance and symmetry. Twenty-seven patients with macrostomia underwent surgery using the proposed method. Facial measurements were analyzed preoperatively, 1 week postoperatively, and during a long-term follow-up using statistical software. The overall length ratio of the healthy and affected sides of the vermillion preoperatively, 1 week postoperatively, and during the long-term follow-up was 1:1.61, 1:1.01, and 1:1.00, respectively (all, > 0.05). The overall angle between the pupil line and the commissure line was 9.90° preoperatively, 2.34° postoperatively, and 3.31° during the long-term follow-up. There was no statistically significant difference in the covering relation of the upper and lower lips between the affected and healthy sides postoperatively ( > 0.05). 3dMD Dynamic Surface Imaging System (3dMD, Atlanta, GA, USA) showed a symmetrical three-dimensional commissure structure during long-term follow-up measurements. The symmetry and appearance of patients with macrostomia commissure significantly improved following this modified surgical method.
Topics: Humans; Lip; Macrostomia; Muscles; Plastic Surgery Procedures; Surgical Flaps
PubMed: 35020489
DOI: 10.1089/fpsam.2021.0084 -
Acta Otorrinolaringologica Espanola 2019
Topics: Branchial Region; Early Diagnosis; Goldenhar Syndrome; Humans; Macrostomia; Phenotype; Registries
PubMed: 29728157
DOI: 10.1016/j.otorri.2017.11.005 -
Cornea Jul 2018To report a case of ablepharon-macrostomia syndrome and surgical treatment options. (Review)
Review
PURPOSE
To report a case of ablepharon-macrostomia syndrome and surgical treatment options.
METHODS
Case report and literature review.
RESULTS
A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly, and ambiguous genitalia. Despite intensive ocular lubrication, severe exposure keratopathy developed within the first days after birth. The eyes were closed using masquerade flaps for 6 weeks. In a secondary procedure at the adjusted age of 3 weeks, the flaps were partially divided, and visual input and development were successfully achieved, while maintaining corneal protection.
CONCLUSIONS
We present a rare case of a prematurely born infant with a severe phenotype of ablepharon-macrostomia syndrome, surgically treated with masquerade flaps to preserve corneal health and allow bilateral visual input.
Topics: Abnormalities, Multiple; Cornea; Eye Abnormalities; Eyelids; Humans; Infant, Newborn; Macrostomia; Male; Ophthalmologic Surgical Procedures; Surgical Flaps; Treatment Outcome
PubMed: 29538102
DOI: 10.1097/ICO.0000000000001563