Hemifacial microsomia

This study aimed to document the prevalence, severity, and risk factors of velopharyngeal dysfunction (VPD) in craniofacial microsomia (CFM) and to analyse differences in VPD-related speech characteristics between CFM patients without cleft lip and/or palate (CL/P), CFM patients with CL/P, and CL/P patients without CFM (control). A total of 223 patients with CFM were included, of whom 59 had a CL/P. Thirty-four CFM patients had VPD, including 20 with a CL/P. VPD was significantly more prevalent in CFM with CL/P than in CFM without CL/P (odds ratio (OR) 4...

The induced bone generation procedure (osteogenic distraction [OD]) is frequently used in cases of jaw deformities in patients with, hemifacial microsomia, mandibular hypoplasia, and so on. This study was undertaken to provide criteria to perform this procedure. The authors evaluated the effects of various parameters using OD to determine the optimal variables. Sixty distractors were placed in 30 canine subjects who then underwent OD after appropriate osteotomy. The procedures were performed during varying latency periods, distraction periods, distraction rate distance, and the consolidation period...

Pulmonary agenesis is a rare congenital anomaly which can be isolated or co-exist with other developmental defects. Boyden et al has described three degrees of mal development of lung which include agenesis, hypoplasia and aplasia. Almost all the reported cases are in paediatric age group patients while, adults with pulmonary developmental abnormalities are sparsely documented in the literature. Interestingly, adult with coexisting hemifacial anomaly and pulmonary agenesis has not been reported in the medical literature...

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies...

BACKGROUND: Lobule transposition, a common procedure in auricle reconstruction, has been successfully performed over the past few decades. However, the transposition methods for unilateral microtia with evident asymmetry of bilateral earlobe positions still remain a challenge. The objective of this study was to investigate the application of prograde transposition for anteriorly low-set earlobes. METHOD: A total of 25 patients with lobule-type microtia with anteriorly low-set residual earlobe underwent prograde transposition during auricle reconstruction between 2020 and 2022...

Orthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients with combined pituitary hormone deficiency, oculo-auriculo-vertebral spectrum, and hemifacial microsomia. There has been one previously published case of a patient carrying a 14q22.3 duplication that included OTX2 with hemifacial microsomia who also developed medulloblastoma. Here, we present a case of a 6-year-old girl with a history of delayed development who was diagnosed with medulloblastoma...

Pediatric temporomandibular joint (TMJ) disorders represent a broad range of congenital and acquired diagnoses. Dentofacial deformities, including facial asymmetry, retrognathism, and malocclusion, commonly develop. Compared with adult TMJ conditions, pain and articular disc pathology are less common. Accurate diagnosis is paramount in planning and prognostication. Several specific considerations apply in preparation for skeletal correction, including timing in relation to disease progression and growth trajectory, expectation for postcorrection stability, reconstructive technique as it applies to expected durability and need for future revision, management of occlusion, and need for ancillary procedures to optimize correction...

Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-year-old female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side...

This study aimed to probe into the anatomic course of inferior alveolar nerve canal (IANC) in hemifacial microsomia (HFM) on a large scale, morphological observations and further quantitative study were performed. Patients were classified by Pruzansky-Kaban classification. The anatomic course of IANC was analyzed morphologically with three-dimensional (3D) imaging software among 248 patients. Seven distances between fixed landmarks on both sides were measured for 236 patients. The differences between affected and unaffected sides were compared...

BACKGROUND: Single-stage microtia auricular reconstruction is becoming more relevant. The determining factor is a temporoparietal fascia flap (TPF) with both branches of the superficial temporal artery (STA). There are not many studies regarding vascular branching in people with microtia. METHODS: We conducted an anatomical study on the TPF flap harvested during single-stage endoscopic-assisted microtia auricular reconstruction from May 2018 to July 2021. We observed the flaps under endoscopic and surgical microscopes to determine several variables (vascular size, number of frontal/parietal branches, distance from the branching location to the estimated external ear canal, distance from the frontal artery to projected course of facial nerve's frontal branch, etc...

No abstract text is available yet for this article.

BACKGROUND: To report a case of a 4-year-old patient with Goldenhar syndrome. CASE PRESENTATION: The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia...

AIM: The aim of this cross-sectional study was to evaluate, via cone-beam computed tomography, the long-term postoperative outcome in children treated with mandibular distraction osteogenesis. MATERIALS AND METHODS: All young patients treated with mandibular distraction osteogenesis (MDO), during a 16-year period, at the University Department of Oral and Maxillofacial Surgery of a Pediatric Hospital, were recalled, and various clinical and radiographic parameters were recorded...

BACKGROUND: Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of anomalies on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present the genetic findings of a large three-generation family with multiple members affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant segregation pattern. METHODS: We generated whole genome sequencing data for the proband, affected parent and unaffected paternal grandparent followed by Sanger sequencing on 23 family members for the top 10 candidate genes: KCND2, PDGFRA, CASP9, NCOA3, WNT10A, SIX1, MTF1, KDR/VEGFR2, LRRK1 , and TRIM2 ...

Objective: To study the clinical and CT features of the abnormal whole-course wide of eustachian tube (AWWET) with microtia and atresia(MA). Methods: The clinical and CT data of 19 patients (20 ears) from January 2017 to December 2021 with AWWET with MA were retrospectively analyzed, including 15 males and 4 females. The age ranged from 5 to 16 years, with an average of 9.5 years. 50 patients with common MA without wide eustachian tube(ET) as a case control group, including 32 males and 18 females.The age ranged from 5 to 16 years, with an average of 9...

The aim of this study is to present a sequential strategy of soft-tissue, non-osteogenic distraction with a novel device, followed by microvascular bony reconstruction for severe cases of mandibular hypoplasia. The case of a 21-year-old woman with Goldenhar syndrome is presented, whose mandible remained severely hypoplastic despite previous attempts at distraction and was not suitable for further osteogenic distraction. Soft tissue deficiency and pin track scarring prevented free fibular transfers. A personalized distractor, anchored to the cranium and the mandibular symphysis, was designed to expand the soft tissues while allowing for physiological temporomandibular joint (TMJ) movement without compression forces...

BACKGROUND: Injecting botulinum toxin into the submandibular glands (SMG) can treat drooling symptoms in neurological diseases and improve the aesthetics of SMG hypertrophy and ptotic SMG. OBJECTIVES: This study defined the size and position of the SMG using high-frequency ultrasound and performed statistical analysis to improve the treatment safety and accuracy of botulinum toxin injection therapy. METHODS: Neck ultrasonography with high-frequency ultrasound was performed on 214 volunteers...

We present a case of a patient with achondroplasia, hemifacial microsomia and an fibroblast growth factor receptor3 c.138G>A mutation. An association between the 2 conditions has not been previously described, but there is biological plausibility that the etiology of the 2 conditions is linked.

BACKGROUND: Mandibular distraction osteogenesis (MDO) is a major part of the treatment for hemifacial microsomia patients. Due to the narrow surgical field of the intraoral approach, osteotomy accuracy is highly dependent on the surgeons' experience. Electromagnetic (EM) tracking systems can achieve satisfying accuracy to provide helpful real-time surgical navigation. Our research team developed an EM navigation system based on artificial intelligence, which has been justified in improving the accuracy of osteotomy in the MDO in animal experiments...

Hemifacial Microsomia (HFM) is the second most common congenital craniofacial malformation syndrome, and the complexity of HFM makes its treatment challenging. The present study aimed to introduce a new approach of utilization of virtual surgical planning (VSP) and 3D-printed surgical adjuncts for maxillofacial reconstruction. Five HFM patients were included in this study. All participants were provided with a full VSP, including the design of osteotomy lines, the design and fabrication of 3D-printed cutting guides, fixation plates, and titanium mesh for implantation...