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Archives of Plastic Surgery Jan 2019Various surgical techniques have been used to correct Tessier number 7 craniofacial cleft, which involves macrostomia, ear deformity, and hemifacial microsomia. To...
BACKGROUND
Various surgical techniques have been used to correct Tessier number 7 craniofacial cleft, which involves macrostomia, ear deformity, and hemifacial microsomia. To achieve symmetrical and satisfactory results in patients with macrostomia, the authors performed a 1-mm medial overcorrection on the cleft side and evaluated the results of this procedure.
METHODS
A retrospective medical record review of patients diagnosed with Tessier number 7 craniofacial cleft from March 1999 to February 2017 was performed. Using clinical photographs, outpatient clinic records, and operative records, information was recorded regarding concurrent congenital anomalies, postoperative complications, and follow-up. Using Photoshop CS2, the length of both sides of the lip was compared. The ratio of these lengths was calculated to evaluate lip symmetry.
RESULTS
Of the patients treated at the Department of Plastic and Reconstructive Surgery at Kyungpook National University Chilgok Hospital, 11 (male-to-female sex ratio, 7:4) were diagnosed with Tessier number 7 craniofacial cleft. Concurrent congenital anomalies included skin tag, hemifacial microsomia, and cleft palate. The mean duration of follow-up was 78.273±72.219 months and the mean ratio of the lengths of both sides of the lip was 1.048±0.071. Scar widening occurred as a postoperative complication in some patients. No cases of wound infection, bleeding, or wound dehiscence occurred.
CONCLUSIONS
For the successful correction of macrostomia, plastic surgeons should consider both functional and aesthetic problems of the lip. Adequate repair of the orbicularis oris muscle, skin closure with Z-plasty, and medial overcorrection of the neo-oral commissure led to good results in our patients.
PubMed: 30685937
DOI: 10.5999/aps.2018.01193 -
Journal of Indian Association of... Oct 2014Lateral clefts are rare in occurrence. The lateral cleft is cause by failure of fusion of the maxillary and mandibular dermatomes. It is also associated with preaurical...
Lateral clefts are rare in occurrence. The lateral cleft is cause by failure of fusion of the maxillary and mandibular dermatomes. It is also associated with preaurical tags. We present a case of a lateral cleft of the lip with multiple bilateral preauricular tags that was repaired using triangular flaps.
PubMed: 25336811
DOI: 10.4103/0971-9261.142022 -
American Journal of Human Genetics Jul 2015Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish...
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based solely upon the nature of the substituting amino acid: a lysine at TWIST2 residue 75 resulted in AMS, whereas a glutamine or alanine yielded BSS. TWIST2 encodes a basic helix-loop-helix transcription factor that regulates the development of mesenchymal tissues. All identified mutations fell in the basic domain of TWIST2 and altered the DNA-binding pattern of Flag-TWIST2 in HeLa cells. Comparison of wild-type and mutant TWIST2 expressed in zebrafish identified abnormal developmental phenotypes and widespread transcriptome changes. Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding.
Topics: Abnormalities, Multiple; Amino Acid Sequence; Animals; Base Sequence; Chromatin Immunoprecipitation; Exome; Eye Abnormalities; Eyelid Diseases; HeLa Cells; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Macrostomia; Microscopy, Electron; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Phenotype; Protein Conformation; Repressor Proteins; Sequence Analysis, DNA; Skin Abnormalities; Twist-Related Protein 1; Zebrafish
PubMed: 26119818
DOI: 10.1016/j.ajhg.2015.05.017 -
American Journal of Medical Genetics.... May 2013The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital...
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.
Topics: Congenital Abnormalities; Congenital Microtia; Ear; Female; Humans; Infant, Newborn; Live Birth; Logistic Models; Male; Risk Factors; South America; Stillbirth
PubMed: 23554119
DOI: 10.1002/ajmg.a.35888 -
MedRxiv : the Preprint Server For... Feb 2024Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of anomalies on derivatives from the first and second pharyngeal arches including macrostomia,...
BACKGROUND
Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of anomalies on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present the genetic findings of a large three-generation family with multiple members affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant segregation pattern.
METHODS
We generated whole genome sequencing data for the proband, affected parent and unaffected paternal grandparent followed by Sanger sequencing on 23 family members for the top 10 candidate genes: and . We performed parent and sibling-based transmission disequilibrium tests and burden analysis to explore segregation and burden of candidate gene mutations. Bioinformatic analyses investigated the biological connection between genes and the abnormal phenotypes.
RESULTS
Overall, rare missense mutations in and showed the best evidence of segregation with the OAV phenotypes in this family. When considering affection with any of the 3 OAVS phenotypes as an outcome, parent-TDTs and sib-TDTs (unadjusted p-values) found that (p=0.025, p=0.052), followed by (p=0.180, p=0.069) and (p=0.180, p=0.069) have the strongest associations in this family. Burden analysis via a penalized linear mixed model identified (RC=0.87) and (RC=0.98) as having the strongest association with OAVS severity. Using phenotype-specific ogfrautcomes, sib-TDTs identified associations between (1) with uni- or bilateral ptosis (p=0.049) and ear tags (p=0.01), (2) and with ear tags (both p<0.01).
CONCLUSION
Our study reports the genomic findings of a large family with multiple individuals affected with OAVS phenotypes with autosomal dominant inheritance. Our findings narrow down to three potential candidate genes, , , and . Among these, has been previously associated with OAVS ear malformations and it is co-expressed with during ear development. Attempts to strengthen the genotype-phenotype co-relation underlying the OAVS of phenotypes are essential to discover the etiological factors leading to this complex and burdensome condition as well as for family counseling and prevention efforts.
PubMed: 38370836
DOI: 10.1101/2024.02.07.24301824 -
BMC Pulmonary Medicine Aug 2019Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the...
BACKGROUND
Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rarely in visceral anomalies. The only laryngo-tracheal defect reported is malacia, with no reference to any anatomical stenosis. We describe a unique case of laryngo-tracheal stenosis in a woman, with genetically confirmed AMS currently followed at our Department.
CASE PRESENTATION
A 37-year-old Caucasian woman was admitted to the intensive care unit for acute dyspnea that required orotracheal intubation followed by tracheostomy. The bronchoscopy revealed abnormal tracheal tissue at the level of the cricoid and the first three tracheal rings reducing airway caliber by 80% (grade III according to the Cotton-Meyer classification). Treatment of the stenosis by means of temporary tracheostomy and corticosteroids therapy resulted in airway patency restoration and patient's return to her normal activities. Bronchoscopy at four and five months showed disappearance of the abnormal tissue and a residual anatomical laryngo-tracheal stenosis of about 20% (grade I according to the Cotton-Meyer classification) of the normal airway caliber.
CONCLUSIONS
To our knowledge, this is the first patient affected by AMS presenting with laryngo-tracheal stenosis.
Topics: Abnormalities, Multiple; Adrenal Cortex Hormones; Adult; Dyspnea; Eye Abnormalities; Female; Humans; Intubation, Intratracheal; Macrostomia; Mutation; Trachea; Tracheal Stenosis; Tracheostomy
PubMed: 31462237
DOI: 10.1186/s12890-019-0921-8 -
Annals of Maxillofacial Surgery 2022Accessory maxilla is a rare condition often associated with Tessier type-7 clefts with fewer than 25 cases recorded in the literature. This manuscript reports a...
THE RATIONALE
Accessory maxilla is a rare condition often associated with Tessier type-7 clefts with fewer than 25 cases recorded in the literature. This manuscript reports a unilateral accessory maxilla with six supernumerary teeth.
PATIENT CONCERNS
A 5-1/2-year-old boy, a treated macrostomia case, on follow-up visit showed evidence of accessory maxilla with teeth on radiological examination. The structure was interfering with growth, and hence, surgical removal was planned.
DIAGNOSIS
Based on clinical history, diagnosis and imaging, accessory maxilla with supernumerary teeth was diagnosed.
TREATMENT AND OUTCOMES
The accessory structures and teeth were removed surgically via an intraoral approach. Healing was uneventful. The growth deviation was arrested.
TAKE-AWAY LESSONS
Intraoral approach is a good option to remove an accessory maxilla. Tessier type-7 cleft may be accompanied by type-5 clefts and such accessory structures when impinging on vital structures such as temporomandibular joint or facial nerve should be immediately removed to facilitate proper form and function.
PubMed: 36874777
DOI: 10.4103/ams.ams_163_22 -
Indian Dermatology Online Journal 2019Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and...
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy. These findings are consistent with BSS.
PubMed: 30984591
DOI: 10.4103/idoj.IDOJ_68_18 -
BMJ Case Reports Oct 2016Macrostomia is a rare medical condition, defined as an enlargement of the mouth at the oral commissure. The incidence varies between 1 in 60 000 to 1 in 300 000 live...
Macrostomia is a rare medical condition, defined as an enlargement of the mouth at the oral commissure. The incidence varies between 1 in 60 000 to 1 in 300 000 live births. Macrostomia is a form of a facial cleft. Macrostomia can present as a unilateral or bilateral anomaly with a partial or complete cleft. Associated anomalies of the surrounding bone, muscle and soft tissue can also be present with or without the presence of a syndrome. Macrostomia results in aesthetic disharmony and also in functional problems. In both cases surgery is the treatment of choice. In cases of macrostomia, additional investigations should be performed to rule out accompanying cardiac and renal anomalies and associated syndromes. A multidisciplinary approach and good collaboration between healthcare providers is essential for optimal care of these patients.
Topics: Abnormalities, Multiple; Cleft Lip; Ear Auricle; Humans; Infant, Newborn; Macrostomia; Male
PubMed: 27793865
DOI: 10.1136/bcr-2016-216752 -
Case Reports in Dentistry 2014Macrostomia is a congenital deformity resulting from failure of fusion of maxillary and mandibular process. It is a rare congenital deformity with an incidence of 1 in...
Macrostomia is a congenital deformity resulting from failure of fusion of maxillary and mandibular process. It is a rare congenital deformity with an incidence of 1 in 60,000 to 1 in 300,000 live births. Transverse facial clefts are more common on right side of face in unilateral cases. Males are more affected than females. Various surgical techniques have been described in the literature for the correction of these defects. We report a case of macrostomia corrected with Z-plasty closure for skin, overlapping muscle closure, and triangular mucosal flap for commissure, with a review on existing techniques.
PubMed: 25400956
DOI: 10.1155/2014/471353