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Journal of Cutaneous and Aesthetic... 2024Tessier No. 7 cleft is the most common atypical craniofacial cleft with an incidence of 1:3000-5642 births. This clinical report describes the successful management of a...
Tessier No. 7 cleft is the most common atypical craniofacial cleft with an incidence of 1:3000-5642 births. This clinical report describes the successful management of a delayed, unusually hypopigmented postoperative facial scar following the surgical closure of a Tessier 7 cleft using the Pfeiffer wave line incision. In the absence of any other associated systemic lesions, the scar was treated as a localized leucoderma. The scar coloration improved dramatically with the chosen line of conservative medical treatment, and a surgical revision was not required. This report highlights the need for continuous follow up despite seemingly good short-term results. The medical management of the hypopigmented scar will aid fellow practitioners who may face similar dilemmas.
PubMed: 38800808
DOI: 10.4103/JCAS.JCAS_11_21 -
Diagnostics (Basel, Switzerland) Mar 2024Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000-1/300,000 live births. Besides perioral tissue...
Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000-1/300,000 live births. Besides perioral tissue abnormalities manifesting as macrostomia, Tessier 7 cleft also involves anomalies of the underlying bony structures. It can appear as part of a syndrome, such as Treacher-Collins syndrome or Goldenhar/Orbito-Auriculo-Vestibular Spectrum, or as an isolated form (unilateral or bilateral) with variable expressions. Bilateral maxillary duplication in Tessier 7 cleft is considered extremely rare, accounting for only two previously presented cases. Given that the cases presented in the literature mainly focus on clinical appearance and surgical treatment, without providing sufficient imaging, we aim to present key radiological features of Tessier 7 cleft in terms of evaluating the involved structures, which is essential for the therapeutic approach and final outcome. A 17-year-old male with incompetent lips and orthodontic abnormalities was referred to our Radiology Department for orthopantomography (OPG) and CT examinations. Hetero-anamnestic data revealed a history of surgical treatment of the commissural cleft conducted 2 months after the birth to enable feeding. Intraoral examination showed a maxillary cleft and supernumerary teeth. Since the given clinical presentation was inconclusive, radiological diagnostics took precedence in elucidating this complex entity.
PubMed: 38611628
DOI: 10.3390/diagnostics14070714 -
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 -
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... 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 -
International Journal of Surgery Case... Oct 2023Introduction and importance Tessier 7 craniofacial congenital cleft is a rare anomaly, occurring in about 1 in 80,000 to 1 in 300,000 live births, comprising 0.3% to...
UNLABELLED
Introduction and importance Tessier 7 craniofacial congenital cleft is a rare anomaly, occurring in about 1 in 80,000 to 1 in 300,000 live births, comprising 0.3% to 1.0% of total cleft cases. A total of 24 cases have been reported since 2000. This case is the 25th instance and possibly the first reported in Nepal.
PRESENTATION OF THE CASE
A 3-year-old child, accompanied by parents, presented at the Department of Oral and Maxillofacial Surgery with complaints of feeding difficulties, speech impediment, and aesthetic concerns. Diagnosis revealed Tessier number 7 congenital cleft. Surgical intervention successfully repaired the cleft, involving straight-line closure of mucosa and skin, suturing of perioral muscles to establish a new modiolus and formation of a new commissure. Postoperative follow-up over 6 months demonstrated excellent functional and aesthetic results without any complications.
CLINICAL DISCUSSION
Tessier 7 congenital cleft arises from anomalous fetal development, stemming from incomplete fusion of the maxillary and mandibular processes of the first pharyngeal arch. Surgical correction poses challenges due to atypical anatomical positioning and cleft appearance. The repair involves layered closure, linear mucosal closure, perioral muscle reorganization to establish a new modiolus, skin closure via straight-line or z-plasty techniques, culminating in the creation of a new commissure.
CONCLUSION
Given its rarity, surgeons must be well-versed in the intricate surgical protocol for Tessier 7 cleft treatment. Early intervention is crucial for optimal functional and cosmetic results. Key steps encompass establishing a new modiolus, forming a new commissure, and achieving effective skin closure.
PubMed: 37716065
DOI: 10.1016/j.ijscr.2023.108826 -
BioRxiv : the Preprint Server For... Jun 2023Ciliopathies are associated with wide spectrum of structural birth defects (SBD), indicating important roles for cilia in development. Here we provide novel insights...
Ciliopathies are associated with wide spectrum of structural birth defects (SBD), indicating important roles for cilia in development. Here we provide novel insights into the temporospatial requirement for cilia in SBDs arising from deficiency in , an intraflagellar transport protein regulating ciliogenesis. deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects), exencephaly, body wall defects, tracheoesophageal fistula, randomized heart looping, congenital heart defects (CHD), lung hypoplasia, renal anomalies, and polydactyly. Tamoxifen inducible CAG-Cre deletion of a floxed allele between E5.5 to 9.5 revealed early requirement for 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 was not observed with four 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 ciliopathy.
PubMed: 37333142
DOI: 10.1101/2023.06.07.544132 -
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 -
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