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Journal of Clinical Medicine Jan 2024Lower lip reconstruction is crucial to restore oral integrity post-cancer excision. A perfect balance between form and function should be achieved. With an aging...
BACKGROUND
Lower lip reconstruction is crucial to restore oral integrity post-cancer excision. A perfect balance between form and function should be achieved. With an aging demographic, adapting surgical methods to meet the unique needs of the elderly becomes imperative. Our study aims to introduce a specialized algorithm for lower lip reconstruction; it was tailored to geriatric patients and emphasized the use of "simpler flaps". Additionally, "Pearls and Pitfalls" were provided for surgeons approaching lower lip reconstruction.
METHODS
Between January 2018 and June 2021, a retrospective study was carried out. Data collection included patient demographics, defect attributes, reconstructive approaches, flap viability assessment, wound healing, and complications. The follow-up was carried out for a period of a minimum of 6 months.
RESULTS
Among 78 patients, squamous cell carcinoma predominated with a mean defect area of 3308 cm. Postoperative complications were recorded in two patients. All patients reported sensory restoration and overall satisfaction at the 6-month follow-up; secondary procedures were not necessary.
CONCLUSION
Our reconstructive algorithm, focused on elderly patients, prioritizes less invasive reconstructive techniques and introduces innovative modifications to the established methods to achieve both aesthetic and functional outcomes with a low complication rate. In patients undergoing lower lip reconstruction, the subjective microstomia was found to be less relevant than the objective microstomia.
PubMed: 38256687
DOI: 10.3390/jcm13020554 -
Journal of Stomatology, Oral and... Jun 2024This study aimed to assess the functional and esthetic outcomes of a chimeric innervated buccinator myomucosal-submental island flap (BMM-SIF) for large composite lower...
OBJECTIVE
This study aimed to assess the functional and esthetic outcomes of a chimeric innervated buccinator myomucosal-submental island flap (BMM-SIF) for large composite lower lip reconstruction.
METHODS
This retrospective study included five patients who underwent lower lip tumor resection and BMM-SIF reconstruction at the Hospital of Stomatology, Sun Yat-sen University, between August 2021 and February 2023. Lip function was evaluated using water leakage, cheek puffing tests, and superficial electromyography. Lip appearance was observed using photographs and evaluated through subjective interviews. Donor-site conditions, including facial symmetry and mouth opening, were monitored.
RESULTS
All the BMM-SIFs survived. Drooling was the main complication observed shortly after surgery. The water leakage test showed complete oral competence for liquid holding in the 7th month; however, moderate air leakage was present in two patients. Electromyography revealed myoelectric signals from the innervated buccinator at the recipient site. Facial expression and food intake were typically managed. The shape and projection of the vermilion were harmonious and satisfactory for each patient. Neither microstomia nor mouth opening limitation was observed, with an average inter-incisor distance of 37.25±4.4 mm.
CONCLUSION
Chimeric motor-innervated BMM-SIF effectively reconstructed large full-thickness lower-lip defects with satisfactory functional and esthetic outcomes.
Topics: Humans; Male; Lip Neoplasms; Retrospective Studies; Female; Middle Aged; Lip; Plastic Surgery Procedures; Surgical Flaps; Facial Muscles; Aged; Esthetics; Adult
PubMed: 38561137
DOI: 10.1016/j.jormas.2024.101861 -
Dental Research Journal 2021Tricho-dento-osseous syndrome (TDO) is a rare autosomal dominant disorder with complete penetrance. Common clinical features include abnormalities of hair, teeth, and...
Tricho-dento-osseous syndrome (TDO) is a rare autosomal dominant disorder with complete penetrance. Common clinical features include abnormalities of hair, teeth, and skull. Dental management of TDO patients is quite challenging in terms of existing dental and skeletal problems. The current article presents a 12-year-old girl suffering TDO, followed by a review on the published literature pertaining to the dental management of TDO patients. Patient history included, rejected corneal transplantation, stone-forming kidneys, and several previous dental treatments. She was noted to have signs of mandibular prognatia, frontal bossing of the skull, mild bilateral tibial bowing, microstomia, and labial fissures. Dental findings included severe generalized enamel defects, discolored teeth, microdontia, anterior open-bite, posterior cross-bite, deep periodontal pockets, hyperplastic inflamed gingiva, taurodontism of permanent molars, dental periapical radiolucencies, and missing teeth. She was the only child of healthy, nonconsanguineous parents with no familial history of similar congenital syndrome or dental abnormalities. A treatment plan was established based on medical/dental history and findings, using a team-based approach. This article emphasizes the importance of a multidisciplinary approach for the dental management of patients suffering TDO.
PubMed: 35003563
DOI: 10.4103/1735-3327.330879 -
European Journal of Medical Genetics Jun 2024Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and...
Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region. B4GALT7 encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region. Conditions caused by pathogenic biallelic variants in genes implicated in the synthesis of the tetrasaccharide linker of PG are known as linkeropathies. Prenatal features are rarely described in this group of chondrodysplasias. We present a series of 12 unpublished patients having LRS and describe the perinatal phenotype. All the patients had a prenatal growth restriction with brevity of limbs. The other features revealed by ultrasounds were increased nuchal translucency at 10-12 weeks of gestation (50 %), feet abnormalities (clubfeet or metatarsus varus) (25 %), dislocation affecting at least one large joint (elbow, knee, wrist) (25 %). Bilateral bowing of femora was noted for two fetuses. Fibular hypertrophy was noted for one fetus. Prenatal helical computed tomography (CT) performed in three pregnancies showed additional data such as bowing of the forearm bones, proximal radio-ulnar synostosis, or dislocation of large joints. Prenatal sonographic and helical CT findings led to the prenatal diagnosis of LRS in four patients. We confirm that the neonatal clinical picture of LRS has an important overlap with that reported in patients with B4GALT7 deficiency outside La Réunion Island and other linkeropathies. The core of the phenotypic spectrum combines low birth height, micromelia, hypermobility, dislocation of at least one large joint, facial features with prominent eyes, microstomia, depressed nasal bridge, and midface hypoplasia. Other clinical features include clubfeet (33%), bifid thumb in one patient, and cardiac abnormalities in two patients. Radiological findings include radio-ulnar synostosis (75%), metaphyseal flaring, precocious carpal ossification, and a Swedish key appearance of the proximal femora. Finally, we also report radiological features rarely described in B4GALT7-linkeropathies, including bowing of the femora and fibular hypertrophy. Our results confirm the phenotypic continuum of LRS within linkeropathies with some additional findings, including a high frequency of clubfeet usually described in B3GALT6-linkeropathies, the presence of congenital heart diseases usually described in B3GAT3-linkeropathies, and a high frequency of metaphyseal flaring usually reported in B3GALT6 or XITLT1-linkeropathies. This is the first study that describes the perinatal phenotype in a cohort of patients with LRS. This study can help improve the prenatal diagnosis of the linkeropathies and add this group of conditions to the differential diagnosis of chondrodysplasias with multiple dislocations. In view of the founder effect for LRS in La Réunion Island, this disease should be suspected in fetuses with growth restriction and micromelia. Thus in case of LOH which include B4GALT7 identified in SNP-array, we recommend performing a targeted Sanger sequencing for the recurrent mutation c.808C > T; p. (Arg270Cys).
Topics: Humans; Phenotype; Female; Osteochondrodysplasias; Male; Galactosyltransferases; Infant, Newborn; Pregnancy
PubMed: 38705458
DOI: 10.1016/j.ejmg.2024.104940 -
Cureus Nov 2022Edentulism is considered a poor health condition and may compromise the quality of life. Prosthodontic replacement of missing teeth results in significant improvement of...
Edentulism is considered a poor health condition and may compromise the quality of life. Prosthodontic replacement of missing teeth results in significant improvement of oral functions. Treating a patient with Down syndrome can pose clinical challenges in handling the emotional aspect as well as in rendering treatment. Careful oral analysis and diagnosis of the existing conditions in such patients will enable and pave the way for clinically acceptable treatment results. This clinical report describes the challenges encountered in the prosthodontic management of an edentulous young patient with Down syndrome.
PubMed: 36483899
DOI: 10.7759/cureus.31148 -
National Journal of Maxillofacial... 2022We present a new technique of reconstruction of a partial defect of vermilion in a case of post traumatic defect of lower lip. The vermilion defect was reconstructed by...
We present a new technique of reconstruction of a partial defect of vermilion in a case of post traumatic defect of lower lip. The vermilion defect was reconstructed by the myomucosal flap taken from the labial side of lip posterior and below the anterior lip defect. The lower rounded part of this 3 cm × 2 cm rectangular flap was brought on the outer anterior lip defect through a hole made by splitting the orbicularis oris muscle below the vermilion and its lower end was rotated upward to reconstruct the defect in the anterior and inferior part of vermilion. The secondary defect on the inner lip was closed by mobilization of mucosa. The triangular-shaped skin loss of anterior lower lip and its underlying muscle was closed in anatomic layers meticulously after mobilization of muscle and skin on both sides. The orocutaneous communication created was closed after 3 weeks by a minor operation under local anesthesia. The mouth opening remained normal between the period of lip repair and closure of iatrogenic orocutaneous communication. Good shape with normal color of vermilion and length having proper lip fullness was achieved without any microstomia. The surface of vermilion was smooth without any irregularity. The single scar of lower lip was supple and mobile over the underlying muscle. There was no deglutition, chewing, labial phonation, or any drooling saliva problems. The procedure provided functionally and esthetically satisfying result. We authors have not found a similar technique of lip reconstruction in the literature.
PubMed: 35911806
DOI: 10.4103/njms.NJMS_197_20 -
Brazilian Journal of Anesthesiology... 2023Patients with burns to the head and neck may be difficult to intubate or ventilate via facemask. Furthermore, post-burn scarring and microstomia may reduce the success...
Patients with burns to the head and neck may be difficult to intubate or ventilate via facemask. Furthermore, post-burn scarring and microstomia may reduce the success of rescue supraglottic airway placement. While awake tracheal intubation using a flexible intubation scope is considered the optimal technique for these patients, it may not always be feasible in the pediatric population. We report a case of successful management of a difficult airway in a child with extensive post-burn head and neck deformity using a noninvasive positive pressure system to aid with inhalational induction and deep sedation during intubation using a flexible scope.
PubMed: 33887337
DOI: 10.1016/j.bjane.2021.03.012 -
Molecular Genetics & Genomic Medicine Apr 2024Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear... (Review)
Review
BACKGROUND
Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457).
METHODS
This study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2.
RESULTS
The proband, a 5-day-old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved.
CONCLUSION
As with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required.
Topics: Humans; Infant, Newborn; Male; China; Ear; Ear Diseases; Micrognathism; Phospholipase C beta; East Asian People
PubMed: 38618928
DOI: 10.1002/mgg3.2441 -
Maxillofacial Plastic and... Dec 2019Transverse facial clefts are Tessier's number 7 facial cleft among numbers 1-15 in Tessier's classification of craniofacial malformations, which varies from a simple...
BACKGROUND
Transverse facial clefts are Tessier's number 7 facial cleft among numbers 1-15 in Tessier's classification of craniofacial malformations, which varies from a simple widening oral commissure to a complete fissure extending towards the external ear.
CASE PRESENTATION
In a patient with a transverse facial cleft, to functionally arrange the orbicularis oris muscle and form the oral commissure naturally, we performed a surgical procedure including orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty.
CONCLUSION
We achieved good results functionally and esthetically by orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty. The surgical modality of our anatomical repair and 3 months follow-up results are presented.
PubMed: 31844633
DOI: 10.1186/s40902-019-0240-2 -
JAAD Case Reports Oct 2019
PubMed: 31649976
DOI: 10.1016/j.jdcr.2019.08.004