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Cureus Jul 2023Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth,...
Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth, and absence or underdevelopment of the tongue. The syndrome complex of otocephaly can be categorized into four types based on associated anomalies. We present a case of this congenital anomaly in a newborn baby delivered by a 40-year-old woman who presented in active labor with premature rupture of membranes. Unfortunately, the newborn did not survive due to severe respiratory distress, which was consistent with the clinical features of this congenital anomaly. The rarity of otocephaly poses challenges for both parents and healthcare providers. Early antenatal scans are suggested for the early diagnosis of this condition. Further research and awareness are needed to better understand and manage this rare congenital disorder.
PubMed: 37575700
DOI: 10.7759/cureus.41767 -
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 -
Zhonghua Shao Shang Yu Chuang Mian Xiu... Oct 2023To explore the clinical effects of scalp flaps pedicled with superficial temporal artery parietal branch in repairing facial destructive burn wounds. A retrospective... (Observational Study)
Observational Study
To explore the clinical effects of scalp flaps pedicled with superficial temporal artery parietal branch in repairing facial destructive burn wounds. A retrospective observational study was conducted. From January 2016 to December 2021, 15 patients with facial destructive burns who met the inclusion criteria were admitted to Zhengzhou First People's Hospital, including 11 males and 4 females, aged 22 to 79 years. Two patients were complicated with unilateral eyeball destructive burns, two patients were complicated with unilateral auricle defects, eight patients were complicated with lip and cheek defects, and three patients were complicated with lip, cheek, and unilateral nasal alar defects. The burn wound areas ranged from 9 cm×6 cm to 13 cm×10 cm. The scalp flaps pedicled with superficial temporal artery parietal branch, with the area of 10 cm×7 cm to 15 cm×11 cm, were designed, excised, and transferred for repairing burn wounds. The secondary wounds at the donor sites were repaired with medium-thickness scalp grafts. According to patient's needs, the hairs grew at the facial transplanted flap were removed by laser at 2 weeks after the flap was completely viable, or the expanded scalp flap was used to treat the secondary alopecia in the flap donor area of the head at 3 months after the primary wound repair. The survival of the flap/skin graft and the wound healing of the donor and recipient areas after the primary wound repair were recorded. During the follow-up, the appearance of the flap, the scar hyperplasia at the suture site, the repair effect of facial functional parts, the treatment effects of laser hair removal and secondary alopecia treatment at the flap donor site were observed; the patient's satisfaction with the overall repair effect was inquired. After the primary wound repair, all the flaps transplanted to the burn wounds and the skin grafts transplanted to the secondary wounds of the flap donor sites survived well, and the wounds at the donor and recipient sites of flap healed well. The color, texture, and thickness of flap were basically the same as those of normal facial skin, and the scar at the suture site was slight during 3 to 18 months of follow-up period after the primary wound repair. In 11 patients complicated with lip defects, the oral integrity, and the opening and closing functions of mouth were restored with the mouth opening being 2.0-2.5 cm and no microstomia; all the patients could carry out basic language communication, 8 of them could take regular food, and 3 of them could take soft food. The wounds in two patients with unilateral eyeball destructive burns were repaired. In 2 patients complicated with auricle defects, the wounds were repaired, and the external auditory canals were normal. In 3 patients complicated with unilateral nasal alar defects, their noses had poor appearance with reduced nostrils. No hair growth was observed in the facial flap sites after treatment of laser hair removal in 8 patients. Five patients were successfully treated with expanded scalp flaps for secondary alopecia in the flap donor area of the head. The patients were all satisfied with the overall repair effect. The scalp flap pedicled with superficial temporal artery parietal branch has abundant blood supply and is suitable for repairing the wounds in facial destructive burns. It is easy to transfer and can better restore the appearance and function of the recipient area with minimal damage to the flap donor area, which is worthy of clinical promotion.
Topics: Female; Humans; Male; Alopecia; Burns; Cicatrix; Facial Injuries; Perforator Flap; Plastic Surgery Procedures; Scalp; Skin Transplantation; Soft Tissue Injuries; Temporal Arteries; Treatment Outcome; Young Adult; Adult; Middle Aged; Aged
PubMed: 37899556
DOI: 10.3760/cma.j.cn501225-20230312-00077 -
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 -
The Journal of Prosthetic Dentistry Jan 2024When treating a patient with microstomia, prosthesis design can become challenging and often requires modifications. The patient's ability to insert and remove the...
When treating a patient with microstomia, prosthesis design can become challenging and often requires modifications. The patient's ability to insert and remove the appliance may also be a problem. This clinical report describes the fabrication of a positioning appliance for a patient with microstomia. The appliance used the maxillary teeth as a guide to orient the prosthesis appropriately and engage the mandibular LOCATOR abutments.
PubMed: 38238213
DOI: 10.1016/j.prosdent.2023.12.016 -
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 -
Indian Journal of Otolaryngology and... Sep 2023Lower lip reconstruction has been a major challenge for the reconstructive surgeons since time immemorial. Various types of reconstruction had been described for the...
A Novel Technique to Convert Static Sling into a Dynamic Sling in Reconstruction of Total Lower Lip Defects Using Palmaris Longus Tendon with Free Radial Forearm Flap and Case Series.
Lower lip reconstruction has been a major challenge for the reconstructive surgeons since time immemorial. Various types of reconstruction had been described for the reconstruction of lower lip ranging from local flaps to free tissue transfer to free functioning muscle transfer. For complete lower lip defects, the free radial forearm flap with palmaris longus tendon has been the standard of reconstruction for many years. Literatures suggests various techniques for utilizing palmaris longus tendon sling as a static as well as dynamic structure. The limitation with static reconstruction is the loss of sling support with time leading to eversion and drooping of the reconstructed lower lip and drooling of saliva. In this article we describe a simpler and novel technique which converts static reconstruction into a dynamic one with a series of 5 patients. Aim of this prospective study was to evaluate the post operative functional and aesthetic outcome of our technique of total lower lip reconstruction using free radial forearm flap with palmaris longus sling reconstruction. The medical records included were demographics, including age, gender, and reason for the acquired defect, lip reconstructed, reconstructive method, flap survival, and outcomes. At 6 months follow up, all patients had satisfactory outcome and were able to take oral diets and none of the patients complained of drooling, an inability to eat in a public setting, or microstomia. This technique which is a simpler modification can be helpful in converting the traditional static sling reconstruction of lower lip into a dynamic one resulting in good aesthetic and functional outcomes.
PubMed: 37636679
DOI: 10.1007/s12070-023-03789-z -
Head & Neck Jul 2024Reconstruction of vermillion defects of the lower lip requires careful consideration of functional and aesthetic aspects. Traditionally, various local flap methods...
Reconstruction of vermillion defects of the lower lip requires careful consideration of functional and aesthetic aspects. Traditionally, various local flap methods involving tissue advancement from the corner of the mouth, lateral chin, and medial cheek have been commonly employed to fill lower lip defects. However, these approaches have inherent limitations, which include technical complexity, disruption of the orbicularis oris muscle, lip tightening, microstomia, and visible scarring. To overcome these limitations, we employed a free myomucosal composite graft from the lower lip to reconstruct small to medium vermilion defects. Our technique is based on a simple and reproducible surgical approach that facilitates natural volume rearrangement of tissues. Moreover, this method enables precise inset and tension-free repair, prevents lip tightening, and offers excellent aesthetic outcomes with no vertical scarring and appropriate color matching with surrounding tissues.
Topics: Humans; Male; Lip Neoplasms; Lip; Plastic Surgery Procedures; Female; Middle Aged; Aged; Mouth Mucosa; Surgical Flaps; Carcinoma, Squamous Cell; Esthetics
PubMed: 38716759
DOI: 10.1002/hed.27798 -
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