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The Journal of Craniofacial Surgery Jun 2022Macrostomia is arare congenital craniofacial deformity that influences the appearance and function of patients. In most cases, it coexists with craniomaxillofacial...
Macrostomia is arare congenital craniofacial deformity that influences the appearance and function of patients. In most cases, it coexists with craniomaxillofacial deformities such as craniofacial microsomia (CFM). This study aimed to analyze the relationship between macrostomia and mandibular hypoplasia so as to facilitate the early detection and diagnosis of children with CFM. It included 236 patients diagnosed with CFM. All underwent facial expression analysis, multi-angle photography, computed tomography, and three-dimensional reconstruction of soft and hard tissues. The clinical classification was performed according to OMENS+. Spearman (rank) correlation analysis was used to analyze the relationship between the severity of macrostomia (C1 and C2) and the degree of mandibular involvement (M1, M2a, M2b, and M3), and the correlation among the components of OMENS+. Of the 80 cases of macrostomia (34%) reported, 72 cases (90%) were C1 and 8 (10%) were C2. The analysis of OMENS+ revealed significant correlations among OMENS+ components. Also, a high correlation was observed between macrostomia (C) and hypoplasia of the mandible (M) ( P = 0.002). Macrostomia was closely related to mandibular hypoplasia among children diagnosed with CFM. These results suggested that patients with macrostomia, who might also have craniofacial malformations caused by other first branchial arch anomalies, should be comprehensively physically examined for other syndromes.
Topics: Child; China; Goldenhar Syndrome; Humans; Macrostomia; Mandible; Micrognathism
PubMed: 35045015
DOI: 10.1097/SCS.0000000000008247 -
Facial Plastic Surgery & Aesthetic... 2022Most of the characteristic facial features of patients with unilateral macrostomia are attributed to the malformation of commissure muscles. This study aimed to...
Most of the characteristic facial features of patients with unilateral macrostomia are attributed to the malformation of commissure muscles. This study aimed to evaluate a modified surgical treatment for such patients that focuses on both appearance and symmetry. Twenty-seven patients with macrostomia underwent surgery using the proposed method. Facial measurements were analyzed preoperatively, 1 week postoperatively, and during a long-term follow-up using statistical software. The overall length ratio of the healthy and affected sides of the vermillion preoperatively, 1 week postoperatively, and during the long-term follow-up was 1:1.61, 1:1.01, and 1:1.00, respectively (all, > 0.05). The overall angle between the pupil line and the commissure line was 9.90° preoperatively, 2.34° postoperatively, and 3.31° during the long-term follow-up. There was no statistically significant difference in the covering relation of the upper and lower lips between the affected and healthy sides postoperatively ( > 0.05). 3dMD Dynamic Surface Imaging System (3dMD, Atlanta, GA, USA) showed a symmetrical three-dimensional commissure structure during long-term follow-up measurements. The symmetry and appearance of patients with macrostomia commissure significantly improved following this modified surgical method.
Topics: Humans; Lip; Macrostomia; Muscles; Plastic Surgery Procedures; Surgical Flaps
PubMed: 35020489
DOI: 10.1089/fpsam.2021.0084 -
Acta Histochemica Jan 2022Embryogenesis is modulated by numerous complex signaling cascades, which are essential for normal development. The Hedgehog (Hh) signaling pathway is part of these...
Embryogenesis is modulated by numerous complex signaling cascades, which are essential for normal development. The Hedgehog (Hh) signaling pathway is part of these central cascades. As a homolog of Patched (Ptch)-1, Ptch2 initially did not appear to be as important as Ptch1. Recent reports have revealed that Ptch2 plays a crucial role in ligand-dependent feedback inhibition of Hh signaling in vertebrates. The role of Ptch2 in facial development remains unclear. Here, we investigated the detailed expression pattern of Ptch2 during craniofacial development in murine embryos based on in situ hybridization (ISH) studies of whole-mounts and sections, immunohistochemistry (IHC), and quantitative real-time PCR. We found that both Ptch2 mRNA and protein expression increased in a dynamic pattern in the facial development at mouse embryonic days 11-14.5. Moreover, distinct expression of Ptch2 was observed in the structures of the facial region, such as the tooth germ, Meckel's cartilage, and the follicles of vibrissae. These data, combined with our work in the macrostomia family, suggest that Ptch2 may play a critical role in facial development.
Topics: Animals; Hedgehog Proteins; Maxillofacial Development; Mice; Patched Receptors; Patched-2 Receptor; Receptors, Cell Surface; Signal Transduction
PubMed: 34979374
DOI: 10.1016/j.acthis.2021.151835 -
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 -
The Nigerian Postgraduate Medical... 2021Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by craniofacial, skin, skeletal and genital...
Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by craniofacial, skin, skeletal and genital abnormalities. Very few cases have been reported since the first case report in 1977. We report the case of a 6-day-old male delivered to unrelated parents. He was dysmorphic with absent eyelids, eyelashes and eyebrows, large fish-shaped mouth, hyperpigmented thick anterior abdominal wall, absent prepuce amongst other features. Skull X-ray showed poorly developed zygomatic bones. The patient is being managed as a case of AMS in a multidisciplinary fashion. There is no agreement on the mode of inheritance, but authors have suggested autosomal recessive, autosomal dominant, sporadic and familial occurrences. The absence of the prepuce and hyperpigmentation of the anterior abdominal wall as was seen in our patient has not been reported. More case reports are needed to delineate the spectrum of clinical features in AMS.
Topics: Abnormalities, Multiple; Eye Abnormalities; Humans; Macrostomia; Male; Nigeria
PubMed: 34850759
DOI: 10.4103/npmj.npmj_318_20 -
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 -
Journal of Stomatology, Oral and... Jun 2022Macrostomia or lateral cleft lip is a rare congenital deformity. In this article we describe a surgical technique of macrostomia repair developed. The objective of this...
BACKGROUND
Macrostomia or lateral cleft lip is a rare congenital deformity. In this article we describe a surgical technique of macrostomia repair developed. The objective of this article is to assess the results of our surgical technique and to validate a method for macrostomia surgical result evaluation.
METHODS
We included retrospectively patients with unilateral and bilateral macrostomia, operated from 1995 to 2014 in our department. First part of the study was a satisfaction questionnaire completed by patients. The second part was subjective evaluation of frontal photography (closed mouth, wide open and smiling) by surgeons and lay people with a questionnaire. Both group completed a second questionnaire within one to six months.
RESULTS
Eighteen patients answered the questionnaire. The satisfaction for all patients were considered as very good for 38.9% (n = 7) of patients and good for 44.4% (n = 8). 21 patients were photographed, 5 isolated macrostomia, 13 macrostomia with minor facial asymmetry and 3 with a major asymmetry. Surgeons evaluated the result as very good for isolated macrostomia and good for syndromic macrostomia. Layperson evaluated the result as good in isolated macrostomia and macrostomia with minor facial asymmetry and average with major facial asymmetry. P < 0.0001. The evolution of the results between medical and non-medical assessors in our two questionnaires, were non-significant.
CONCLUSION
In this study, we propose a new methodology to assess commissuroplasty surgical results, with a 3 type of evaluator: patients, surgeons and laypeople. We present a simple surgical technique, that allows good results in syndromic and isolated macrostomia.
Topics: Cleft Lip; Esthetics; Facial Asymmetry; Humans; Macrostomia; Retrospective Studies
PubMed: 34224921
DOI: 10.1016/j.jormas.2021.06.018 -
Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2.Orbit (Amsterdam, Netherlands) Dec 2022Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the...
Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Mosaic expression of TWIST2 variants is correlated with a less severe phenotype than that reported for the typical expression of TWIST2 variants associated with BSS or AMS. Abnormal development of the anterior lamella appears to be a common feature in all cases of AMS with mosaic expression. Here, we describe the phenotype of a patient with mosaic expression of a TWIST2 mutation that is typically associated with AMS. We additionally describe the surgical approach employed in the treatment of this patient.
Topics: Humans; Macrostomia; Mutation; Phenotype; Repressor Proteins; Twist-Related Protein 1
PubMed: 34092176
DOI: 10.1080/01676830.2021.1930066 -
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