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Molecular Syndromology Jun 2017Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the gene. Both...
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves.
PubMed: 28690482
DOI: 10.1159/000472408 -
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 -
International Journal of Surgery Case... Dec 2023Macrostomia is a congenital deformity found in Tessier no. 7 facial clefts defined as an enlargement of the mouth at the oral commissure. Several techniques are...
INTRODUCTION AND IMPORTANCE
Macrostomia is a congenital deformity found in Tessier no. 7 facial clefts defined as an enlargement of the mouth at the oral commissure. Several techniques are described in literature to achieve optimal functional and aesthetic results, with varying results and surgeon preferences. In this case series we report surgical repair of macrostomia with a vermillion square flap method for the oral commissure combined with either Z-plasty or W-plasty closure for the skin.
CASES PRESENTATION
A retrospective case analysis of 12 patients with macrostomia operated over the past 7 years at our plastic surgery division was performed (by two different operators; 11 cases by A.S. and 1 case by R.S.). Clinical features of the patients were analyzed through photography documentation, and patient description such as age of operation, operation technique, and complications were obtained through patient records. Macrostomia was corrected with a vermillion square flap method for commissure, overlapping muscle closure, along with either Z-plasty or W-plasty closure for the skin. Quality of lip commissure position, symmetry, thickness of vermillion, and scar result were recorded.
CLINICAL DISCUSSION
In all twelve patients repaired with the overlapping muscle closure and square flap, the lip commissures were formed with satisfactory shape, position, and thickness with no commissure contracture during the follow up period. The Z-plasty was a simpler method compared to the W-plasty, and resulted in comparable scars. One patient (adult with hemifacial macrostomia and W-plasty skin closure) underwent revision surgery for more accurate symmetry and position of the oral commissure.
CONCLUSION
There are many varieties of surgical repair for macrostomia, and each method should be adjusted and combined according to each patient. Overall, macrostomia repair with this technique combination produced satisfactory aesthetic and functional results in all twelve patients. Z-plasty for skin closure after muscle and vermillion closure was a simpler technique and resulted in comparable scars than W-pasty closure in this case series.
PubMed: 37956496
DOI: 10.1016/j.ijscr.2023.109023 -
PLoS Biology Dec 2023Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights...
Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights into the temporospatial requirement for cilia in SBDs arising from deficiency in Ift140, an intraflagellar transport (IFT) protein regulating ciliogenesis. Ift140-deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects), exencephaly, body wall defects, tracheoesophageal fistula (TEF), randomized heart looping, congenital heart defects (CHDs), lung hypoplasia, renal anomalies, and polydactyly. Tamoxifen inducible CAGGCre-ER deletion of a floxed Ift140 allele between E5.5 to 9.5 revealed early requirement for Ift140 in left-right heart looping regulation, mid to late requirement for cardiac outflow septation and alignment, and late requirement for craniofacial development and body wall closure. Surprisingly, CHD were not observed with 4 Cre drivers targeting different lineages essential for heart development, but craniofacial defects and omphalocele were observed with Wnt1-Cre targeting neural crest and Tbx18-Cre targeting epicardial lineage and rostral sclerotome through which trunk neural crest cells migrate. These findings revealed cell autonomous role of cilia in cranial/trunk neural crest-mediated craniofacial and body wall closure defects, while non-cell autonomous multi-lineage interactions underlie CHD pathogenesis, revealing unexpected developmental complexity for CHD associated with ciliopathies.
Topics: Animals; Mice; Cilia; Heart Defects, Congenital; Embryonic Development; Carrier Proteins; Skull; Ciliopathies
PubMed: 38079449
DOI: 10.1371/journal.pbio.3002425 -
International Journal of Surgery Case... Jan 2022• Congenital macrostomia is an uncommon facial malformation in children. • The choice of the surgical procedure should be based on functional, aesthetic results and...
• Congenital macrostomia is an uncommon facial malformation in children. • The choice of the surgical procedure should be based on functional, aesthetic results and the surgeon's experience. • Even in underdeveloped countries, Z-commissuroplasty could be performed with good results. • Further research should focus on long-term follow-up of large series, regardless of the type of surgical procedure.
PubMed: 34968985
DOI: 10.1016/j.ijscr.2021.106738 -
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 -
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