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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 -
Ultrasound in Obstetrics & Gynecology :... May 2024
PubMed: 38748940
DOI: 10.1002/uog.27683 -
Journal of Plastic, Reconstructive &... Jun 2024
Topics: Humans; Surgical Flaps; Plastic Surgery Procedures; Follow-Up Studies; Macrostomia; Female; Male; Treatment Outcome; Infant
PubMed: 38703704
DOI: 10.1016/j.bjps.2024.04.056 -
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 -
The Cleft Palate-craniofacial Journal :... Feb 2024To evaluate the long-term outcomes of linear commissuroplasty and linear skin closure with a focus on commissural migration.
OBJECTIVE
To evaluate the long-term outcomes of linear commissuroplasty and linear skin closure with a focus on commissural migration.
DESIGN
Retrospective study.
PATIENTS
Individuals who underwent transverse facial cleft repair at a single institution between 2004 and 2021.
INTERVENTIONS
The disrupted orbicularis oris muscle was reoriented and sutured. A simple linear commissuroplasty technique was used, and the cheek skin was closed linearly without Z-plasty.
MAIN OUTCOME MEASURES
The distances from Cupid's bow peak to the oral commissure were measured bilaterally, and the difference between the normal and cleft sides was obtained. Finally, its proportional value as a percentage of the total lip length was calculated from short- and long-term follow-up photographs. Cheek scarring and its effects on melolabial fold breakage were evaluated.
RESULTS
Of the 18 patients who underwent transverse facial cleft repair, 12 were included in this study. The mean follow-up period based on medical photographs was 1773.5 days. The average proportional difference was 4.6%, demonstrating no observable commissural migration. There were no consistent trends in the direction of migration, either on the cleft or normal side. In patients with a transverse cleft crossing the melolabial fold, the folds appeared broken before and after the cleft repair surgery.
CONCLUSIONS
No significant long-term commissural migration was observed after transverse facial cleft repair with simple linear commissuroplasty and linear skin closure. Deliberate positioning of the new oral commissure, proper myoplasty, and meticulous skin closure with minimal scar burden can be considered key procedures for successful transverse cleft repair.
Topics: Humans; Infant; Retrospective Studies; Plastic Surgery Procedures; Lip; Mouth Mucosa; Cleft Lip; Cicatrix
PubMed: 38092680
DOI: 10.1177/10556656231207205 -
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 -
Pediatric Dermatology 2024Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized...
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.
Topics: Male; Humans; Child; Hypertrichosis; Abnormalities, Multiple; Hirsutism; Hamartoma; Eyelid Diseases; Hypertelorism; Macrostomia; Skin Abnormalities
PubMed: 37817291
DOI: 10.1111/pde.15436