-
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 -
Journal of Plastic, Reconstructive &... Oct 2023Tessier cleft 7 are rare craniofacial clefts. Live-birth incidence varies from 1/80,000 to 1/300,000, with the incidence of 1 in 120 craniofacial clefts among Asians....
INTRODUCTION
Tessier cleft 7 are rare craniofacial clefts. Live-birth incidence varies from 1/80,000 to 1/300,000, with the incidence of 1 in 120 craniofacial clefts among Asians. Its clinical presentation varies widely in severity, thus, complicating diagnosis and contributing to the lack of consensus regarding its surgical management. The aim of this study is to describe clinical findings, types of Tessier cleft 7 soft tissue repair, and its outcomes in Kuala Lumpur Hospital.
METHODS
This retrospective study reviewed records of children operated from January 2001 to July 2019. Data regarding concurrent congenital anomalies, complications, type of surgery, etc., were collected from outpatient records, operative notes, and clinical photographs.
RESULTS
Twenty-eight children were treated, and 33 clefts (5 bilateral) were repaired. The male-to-female ratio was 1.3:1 (16 males and 12 females). Twenty-three patients had unilateral clefts (82.14%), with 14 right (60.86%) and 8 left (34.78%). Bilateral clefts were less common (17.86%). Twenty-three patients (82.14%) were Malay, 3 (10.71%) Chinese, 1 (3.57%) Indian, and 1 (3.57%) Cambodian. Eleven medical records were untraceable (discontinued due to duration of inactivity). There were 10 straight-line repairs, 5 Z-plasties, and 1 W-plasty performed; 3 cases did not detail the type of repair. One child required scar revision, and 1 had hypertrophic scarring requiring corticosteroid injection-no disturbances in speech or oral incompetency while eating were reported. Duration of follow-up ranged from 3 to 14 years.
CONCLUSION
Our center has a higher rate of Tessier cleft 7 attendance. Straight-line cutaneous repairs combined with inferior vermilion mucosal flap can be used with low rates of complication and revision surgery.
Topics: Child; Humans; Male; Female; Retrospective Studies; Surgical Flaps; Plastic Surgery Procedures; Cleft Lip; Skin Transplantation
PubMed: 37499560
DOI: 10.1016/j.bjps.2023.07.008 -
Ophthalmic Genetics Dec 2023Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be...
PURPOSE
Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis.
METHODS
We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results.
RESULTS
Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome ( = 5), amniotic band syndrome ( = 1), -related disease ( = 1), Goldenhar versus Schimmelpenning syndrome ( = 1), MOTA syndrome ( = 1), and -related disease ( = 1).
CONCLUSION
This is the first report of a possible association between cryptophthalmos and biallelic variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.
Topics: Infant, Newborn; Child; Male; Humans; Child, Preschool; Female; Microphthalmos; Retrospective Studies; Syndrome; Anophthalmos; Eyelids; Rare Diseases
PubMed: 37493047
DOI: 10.1080/13816810.2023.2237568 -
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 -
Clinical Genetics Aug 2023DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding... (Review)
Review
DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes characterized by immunodeficiency, acral and urogenital anomalies: Hoffman, BILU and Ablepharon-macrostomia-like syndrome. We herein report on a mother and two sons with distinct TOP2B-phenotype. Two males reported further delineated genital phenotype of males and all reported patients were reviewed for genotype-phenotype correlation. We believe the patients reported herein along with the previously defined 11 represent a phenotypic spectrum from mild-to-severe immunological, acral and urogenital involvement, for which we propose the acronym "TOP2B-related Immunodeficiency and Congenital Anomalies Spectrum (TICAS)".
Topics: Male; Humans; DNA-Binding Proteins; DNA; Phenotype; Poly-ADP-Ribose Binding Proteins; DNA Topoisomerases, Type II
PubMed: 37068767
DOI: 10.1111/cge.14341 -
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 -
Journal of Surgical Case Reports Jan 2023Tessier no. 7 clefts are characterized by macrostomia, facial muscular diastasis and maxillary and zygomatic bone abnormalities. It is caused by a lack of ectomesenchyme...
Tessier no. 7 clefts are characterized by macrostomia, facial muscular diastasis and maxillary and zygomatic bone abnormalities. It is caused by a lack of ectomesenchyme formation or penetration of the maxillary and mandibular processes during the fourth and fifth weeks of development. A case of bilateral transverse facial cleft with an accessory maxilla and an osseous choristoma is presented. The diagnosis of accessory maxilla was based on clinical findings due to the inaccessibility of orthopantomography and computed tomography scan. Orbicularis oris muscle reconstruction, cheiloplasty and excision of accessory maxilla were done. Histopathological examination of the bony lesion showed an osseous choristoma. There were no postoperative complications or local recurrence of the lesion excised. This case report demonstrates the importance of early diagnosis and intervention in maxillofacial congenital anomalies. Cheiloplasty restores function and gives the patient a natural appearance. The excision of accessory bone prevents further complications in the child's growth.
PubMed: 36636655
DOI: 10.1093/jscr/rjac616 -
Journal of Stomatology, Oral and... Oct 2022Congenital macrostomia is a rare congenital deformity that consists of an enlargement of the commissure of the mouth. The malformation may be unilateral or bilateral and...
Congenital macrostomia is a rare congenital deformity that consists of an enlargement of the commissure of the mouth. The malformation may be unilateral or bilateral and has a polymorphic presentation. Various surgical techniques have been described to correct macrostomia, with only a few cases illustrating the expected results. The surgical repair must consider both esthetic as well as functional impacts for the patient. We here propose a technical note to refine and provide additional information for good achievement of "Double Reversing Z-Plasty" for correction of macrostomia. Our case series also reports good long-term functional and esthetic results obtained with this technique, especially in case of a minor cleft.
PubMed: 35346869
DOI: 10.1016/j.jormas.2022.03.016 -
The Cleft Palate-craniofacial Journal :... Aug 2023To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy. (Review)
Review
OBJECTIVE
To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy.
DESIGN
The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors.
STUDY SETTING
The authors are senior craniofacial surgeons working in high-case load department from university centers where the patients are documented and receive primary as well as secondary treatment and follow-up.
PATIENTS
The patients were selected out of the series of craniofacial deformities taken care of by the authors' department as rare clefts.
MAIN OUTCOME
We describe the full spectrum of cleft 6 as an autonomous entity that could present itself in three subtypes: 6a is the most proximal and could be associated with cleft 8. The subtype 6b is medial toward the zygomatic arch and frequently associated with a bone and teeth appendage (frequently described as a "maxillary duplication"). The subtype 6C goes toward the external ear between the helix crus and the auditory meatus.
CONCLUSIONS
The Tessier's opinion is that Treacher Collins syndrome was the association of clefts 6, 7, and 8 and is no longer sustainable in the light of modern genetics. Most of the cleft 6 are misdiagnosed in the literature.
Topics: Humans; Cleft Palate; Maxilla; Zygoma; Craniofacial Abnormalities; Mandibulofacial Dysostosis
PubMed: 35285292
DOI: 10.1177/10556656221086459