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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 -
International Journal of Surgery Case... Jan 2022• Congenital macrostomia is an uncommon facial malformation in children. • The choice of the surgical procedure should be based on functional, aesthetic results and...
• Congenital macrostomia is an uncommon facial malformation in children. • The choice of the surgical procedure should be based on functional, aesthetic results and the surgeon's experience. • Even in underdeveloped countries, Z-commissuroplasty could be performed with good results. • Further research should focus on long-term follow-up of large series, regardless of the type of surgical procedure.
PubMed: 34968985
DOI: 10.1016/j.ijscr.2021.106738 -
Archives of Plastic Surgery Nov 2021To date, there have been no reports of patients showing a Tessier number 7 cleft with unilateral complete cleft lip and palate. Furthermore, no studies have established...
To date, there have been no reports of patients showing a Tessier number 7 cleft with unilateral complete cleft lip and palate. Furthermore, no studies have established the sequence, plan, or timing of surgical methods for treating patients presenting the above anomalies simultaneously. We report a case of a Tessier number 7 cleft with unilateral complete cleft lip and palate. Two months after birth, lip adhesion was performed on the unilateral complete cleft lip and total excision was performed on the skin tag. At 4 months of age, Tessier number 7 cleft was corrected. At 6 months of age, surgery involving two small triangular flaps was performed on the unilateral incomplete cleft lip after performing lip adhesion. At 13 months of age, two-flap palatoplasty with a vomer flap was performed on the complete cleft palate. At 6 years of age, open rhinoplasty was performed on the unilateral cleft lip nose deformity. At 9 years of age, bone grafting was performed for the alveolar cleft. At follow-up appointments up to 13 years of age, there were no major complications. Here, we present this patient, surgical procedures and timelines, and show our results demonstrating good postoperative outcomes.
PubMed: 34818709
DOI: 10.5999/aps.2021.00857 -
Boletin Medico Del Hospital Infantil de... 2021El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis...
INTRODUCCIÓN
El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis craneofacial asociada al primero y segundo arcos faríngeos, y forma parte del espectro oculoauriculovertebral. La incidencia es de 1 por cada 3500-45,000 recién nacidos vivos, con una razón de sexo masculino/femenino de 3:2.
CASO CLÍNICO
Se presenta el caso de un recién nacido con fenotipo de síndrome oculoauriculovertebral. Se abordó con radiografía de tórax, ecografía abdominal y tamizaje metabólico y auditivo, que reportaron hemivértebra torácica, fusión costal, quiste renal e hipoacusia bilateral profunda, respectivamente. Fue alimentado con lactancia mixta desde el nacimiento, sin lograr una succión adecuada y con pérdida de peso. A los 3 meses de edad recibió terapia de rehabilitación oral con electroestimulación en conjunto de 10 sesiones con 10 mA de intensidad, al igual que a los 23, 24, 25, 27, 30 y 32 meses de edad. A los 4 meses, espesamiento de fórmula con cereal; a los 7 meses, sonda de gastrostomía; a los 20 meses, cirugía de paladar y macrostomía. Mostró mejoría en intensidad de babeo en las primeras 10 sesiones y mejoría en la deglución a las 30 sesiones. A los 3 años de edad consume el 100% de los alimentos por vía oral.
CONCLUSIONES
Con la escasa evidencia científica que este caso aislado aporta, el tratamiento con la terapia de rehabilitación en conjunto con la terapia convencional y la corrección anatómica dio resultados positivos para el trastorno de la deglución.
BACKGROUND
Goldenhar syndrome is a heterogeneous disorder, mostly sporadic or due to a dominant autosomal or recessive pattern of inheritance, that exhibits craniofacial morphogenesis associated with the first and second pharyngeal arches and is part of the oculoauriculovertebral spectrum. Its incidence is of 1 in 3,500-45,000 live newborns, with a male to female ratio of 3:2.
CASE REPORT
We describe the case of a male newborn with oculoauriculovertebral syndrome phenotype. It was approached with chest X-ray, abdominal ultrasound, metabolic and hearing screening, which reported thoracic hemivertebra, costal fusion, renal cyst, and profound bilateral hypoacusis, respectively. Although the newborn was fed with mixed lactation from birth, adequate suction and with weight loss were not achieved. At 3 months of age, as well as at 23, 24, 25, 27, 30 and 32 months of age, the infant received oral rehabilitation therapy with electrostimulation in a set of 10 sessions with 10 mA intensity. At 4 months, thickening of formula with cereal; at 7 months, gastrostomy tube; at 20 months, palate surgery and macrostomy. Improvement in drooling intensity was observed during the first 10 sessions, and improvement in swallowing after 30 sessions. At 3 years of age, the patient consumes 100% of food orally.
CONCLUSIONS
According to limited scientific evidence that this isolated case provides, rehabilitation therapy together with conventional therapy coupled with anatomical correction gave positive results for swallowing disorder.
Topics: Child, Preschool; Deglutition Disorders; Electric Stimulation Therapy; Failure to Thrive; Female; Goldenhar Syndrome; Humans; Infant; Infant, Newborn; Male; Weight Loss
PubMed: 34351893
DOI: 10.24875/BMHIM.20000222 -
Revista Paulista de Pediatria : Orgao... 2021To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most...
OBJECTIVE
To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most frequent congenital anomalies and alert the pediatrician to its rarer and more severe complications.
CASE DESCRIPTION
This case report involves an 18-month-old male infant, only son of non-consanguineous parents. At birth, the child presented craniofacial dysmorphisms (facial asymmetry, maxillary and mandibular hypoplasia, macrostomia, grade 3 microtia, and accessory preauricular tag) restricted to the right side of the face. Additional tests showed asymmetric hypoplasia of facial structures and thoracic hemivertebrae. No cytogenetic or cytogenomic abnormalities were identified. The patient progressed to several episodes of respiratory distress, stridor, and nausea, even after undergoing gastrostomy and tracheostomy in the neonatal period. Investigation guided by respiratory symptoms identified compression of the esophagus and trachea by an aberrant right subclavian artery. After surgical correction of this anomaly, the infant has not presented respiratory symptoms and remains under multidisciplinary follow-up, seeking rehabilitation.
COMMENTS
Craniofacial microsomia presents a wide phenotypic variability compared to both craniofacial and extracraniofacial malformations. The latter, similarly to the aberrant right subclavian artery, is rarer and associated with morbidity and mortality. The main contribution of this case report was the identification of a rare anomaly, integrating a set of malformations of a relatively common condition, responsible for a very frequent complaint in pediatric care.
Topics: Abnormalities, Multiple; Cardiovascular Abnormalities; Goldenhar Syndrome; Humans; Infant; Male; Respiratory Distress Syndrome; Subclavian Artery; Tomography, X-Ray Computed
PubMed: 34076202
DOI: 10.1590/1984-0462/2022/40/2020153 -
Clinical & Experimental Optometry May 2021
Topics: Abnormalities, Multiple; Eye Abnormalities; Humans; Macrostomia
PubMed: 33689605
DOI: 10.1080/08164622.2021.1878839 -
BMC Biology Dec 2020Zebrafish is a model organism widely used for the understanding of gene function, including the fundamental basis of human disease, enabled by the presence in its genome...
BACKGROUND
Zebrafish is a model organism widely used for the understanding of gene function, including the fundamental basis of human disease, enabled by the presence in its genome of a high number of orthologs to human genes. CRISPR/Cas9 and next-generation gene-editing techniques using cytidine deaminase fused with Cas9 nickase provide fast and efficient tools able to induce sequence-specific single base mutations in various organisms and have also been used to generate genetically modified zebrafish for modeling pathogenic mutations. However, the editing efficiency in zebrafish of currently available base editors is lower than other model organisms, frequently inducing indel formation, which limits the applicability of these tools and calls for the search of more accurate and efficient editors.
RESULTS
Here, we generated a new base editor (zAncBE4max) with a length of 5560 bp following a strategy based on the optimization of codon preference in zebrafish. Our new editor effectively created C-to-T base substitution while maintaining a high product purity at multiple target sites. Moreover, zAncBE4max successfully generated the Twist2 p.E78K mutation in zebrafish, recapitulating pathological features of human ablepharon macrostomia syndrome (AMS).
CONCLUSIONS
Overall, the zAncBE4max system provides a promising tool to perform efficient base editing in zebrafish and enhances its capacity to precisely model human diseases.
Topics: Abnormalities, Multiple; Animals; Base Sequence; Eye Abnormalities; Gene Editing; Humans; Macrostomia; Mutation; Zebrafish
PubMed: 33272268
DOI: 10.1186/s12915-020-00923-z -
Annals of Ibadan Postgraduate Medicine Jun 2020Bilateral transverse facial cleft is the most common of the rare facial clefts and early presentation is a key element for successful management and prevention of...
INTRODUCTION
Bilateral transverse facial cleft is the most common of the rare facial clefts and early presentation is a key element for successful management and prevention of possible complications like poor esthetics, speech and eating difficulties. Though several studies have documented reasons for late presentation, none has highlighted non-referral due to missed diagnosis by healthcare workers as a reason.
CASE REPORT
A nine-year-old girl was brought by her parents to the Primary Oral Health Clinic on account of "very wide mouth" noticed at birth. The mother noticed the anomaly few hours after she gave birth to her and immediately pointed the attention of the nurses and birth attendants to it but they dismissed her concern. Subsequently, the mother took the girl to the maternity centre for routine immunization appointments, but none of the healthcare workers she encountered recognized the birth defect. The parents further reported that the girl received jests and abuses from her peers. A diagnosis of Isolated Bilateral Tessier number 7 cleft was made based on clinical examination findings. She was referred to a cleft centre where the repair was successfully carried out at no cost to the patient through the Smile-Train® sponsorship program. Subsequent follow-up visits to the primary healthcare clinic in the sixth and ninth month post-surgery revealed remarkable improvement in both patient's and parents'self-reported psycho-social wellbeing.
CONCLUSION
This case report presents a rare presentation of delayed isolated congenital bilateral macrostomia because of healthcare workers failure to diagnose.
PubMed: 33071692
DOI: No ID Found -
The Journal of International Medical... May 2020Bilateral Tessier no. 7 clefts are rarely reported in the literature. Here, we describe the presence of accessory maxilla with supernumerary teeth in a patient who... (Review)
Review
Bilateral Tessier no. 7 clefts are rarely reported in the literature. Here, we describe the presence of accessory maxilla with supernumerary teeth in a patient who exhibited bilateral Tessier no. 7 clefts; the diagnosis was established based on the patient's history, clinical presentation, and computed tomography images. A review of the available literature revealed 24 patients with Tessier no. 7 clefts from 2000 to 2020, including our patient. The most common clinical manifestation in patients with Tessier no. 7 clefts comprises bilateral facial clefts. Additionally, Tessier no. 7 clefts are more frequently found in boys or men, rather than in girls or women. The presence of an accessory maxilla with supernumerary teeth in a patient with bilateral Tessier no. 7 clefts is extremely rare. Early detection of craniofacial abnormalities is important, because it may influence patient prognosis and management.
Topics: Abnormalities, Multiple; Adult; Craniofacial Abnormalities; Facial Asymmetry; Humans; Imaging, Three-Dimensional; Male; Maxilla; Orthognathic Surgical Procedures; Tomography, X-Ray Computed; Tooth, Supernumerary; Treatment Outcome
PubMed: 32436459
DOI: 10.1177/0300060520925680 -
JPRAS Open Dec 2019Several variations on the surgical technique for macrostomia repair have been described in the literature. There has been controversy regarding the preferred method for...
INTRODUCTION
Several variations on the surgical technique for macrostomia repair have been described in the literature. There has been controversy regarding the preferred method for commissuroplasty and skin closure for optimal functional and aesthetic results. The aim of this study is to present these techniques and the most described methods up to date.Further, five patients operated with a combination of techniques are presented.
MATERIAL AND METHODS
PRISMA guidelines were followed for literature review.Five consecutive patients with unilateral macrostomia operated during a period of one and a half years at our craniofacial department were included in this study.
RESULTS
31 studies on macrostomia repair were obtained. The layered closure technique is widely described with several variations on closure of the inner mucosa, orbicularis muscle, commissure and skin. The inner mucosal layer is in most cases sutured with a straight line closure technique. The muscle is most often duplicated and sutured with upper branches overlapping lower branches. The skin is in most cases sutured with either a z- or a w-plasty with variations.The five presented patients all had satisfactory functional and aesthetic results at follow-up.
CONCLUSION
Many variations of surgical techniques for macrostomia repair have been presented in the past. We believe that each case of macrostomia needs to be assessed with a tailored surgical plan in order to create the best results. A combination of different techniques with Bütow and Botha's and Kaplan's technique as a starting point, is believed to give satisfactory functional and aesthetic results.
PubMed: 32158892
DOI: 10.1016/j.jpra.2019.07.004