OBJECTIVE: To preliminarily verify the effectiveness of self-designed artificial condyle-mandibular distraction (AC-MD) complex in the treatment of Pruzansky type ⅡB and Ⅲ hemifacial microsomia (HFM) through model test. METHODS: Five children with Pruzansky type ⅡB and Ⅲ HFM who were treated with mandibular distraction osteogenesis (MDO) between December 2016 and December 2021 were selected as the subjects. There were 3 boys and 2 girls wih an average age of 8.4 years (range, 6-10 years). Virtual surgery and model test of AC-MD complex were performed according to preoperative skull CT of children. The model was obtained by three-dimensional (3D) printing according to the children's CT data at a ratio of 1∶1. The occlusal guide plate was designed and 3D printed according to the children's toothpaste model. The results of the model test and the virtual surgery were matched in three dimensions to calculate the error of the residual condyle on the affected side, and the model test was matched with the actual skull CT after MDO to measure and compare the inclination rotation of the mandible, the distance between the condylar of the healthy side and the residual condyle of the affected side, and the lengthening length of the mandible. RESULTS: The error of residual condyle was (1.07±0.78) mm. The inclination rotation of the mandible, the distance between the condylar of the healthy side and the residual condyle of the affected side, and the lengthening length of the mandible after 3D printing model test were significantly larger than those after MDO ( P<0.05). CONCLUSION In the model test, the implantation of AC-MD complex can immediately rotate the mandible to the horizontal position and improve facial symmetry, and the residual condyle segment can be guided close to the articular fossa or the preset pseudoarticular position of the skull base after operation.
Male ; Child ; Female ; Humans ; Goldenhar Syndrome/surgery* ; Mandible/surgery* ; Osteogenesis, Distraction/methods* ; Printing, Three-Dimensional ; Facial Asymmetry/surgery*

Humans ; Goldenhar Syndrome ; Phenotype ; Mutation ; DNA-Binding Proteins/genetics* ; Protein Tyrosine Phosphatases/genetics* ; Peptide Elongation Factors/genetics* ; Ribonucleoprotein, U5 Small Nuclear/genetics*

Deformational plagiocephaly (DP) (also referred to as positional plagiocephaly) has long posed challenges for plastic surgeons because it is difficult to differentiate from several other diseases, such as unilateral coronal synostosis, hemifacial microsomia, and unilateral lambdoidal craniosynostosis. These diseases can actually masquerade as DP or vice versa. Only in recent years has the differential diagnosis among these diseases become possible through improved imaging modalities, such as computed tomography, and a greater understanding of their pathophysiology. Herein, we report a rather rare, yet severe, form of DP that can easily be confused with the aforementioned diseases.
Blepharoplasty ; Craniosynostoses ; Diagnosis, Differential ; Facial Asymmetry* ; Goldenhar Syndrome ; Humans ; Plagiocephaly ; Plagiocephaly, Nonsynostotic* ; Plastics ; Surgeons

Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.
Central Nervous System ; Child, Preschool ; Congenital Abnormalities ; Cranial Nerves ; Facial Nerve ; Goldenhar Syndrome ; Hand ; Humans ; Klippel-Feil Syndrome ; Male ; Medulla Oblongata ; Mesoderm* ; Neurologic Examination ; Paralysis ; Poland Syndrome ; Rhombencephalon ; Ribs

Hemifacial microsomia (HFM) is the most common craniofacial anomaly after cleft lip and cleft palate; this deformity primarily involves the facial skeleton and ear, with either underdevelopment or absence of both components. In patients with HFM, the management of the asymmetries requires a series of treatment phases that focus on their interception and correction, such as distraction osteogenesis or functional appliance treatment during growth and presurgical orthodontic treatment followed by mandibular and maxillary surgery. Satisfactory results were obtained in a 9-year-old girl with HFM who was treated with distraction osteogenesis. At the age of 19, genioplasty and mandible body augmentation with a porous polyethylene implant (PPE, Medpor(R), Porex) was sequentially performed for the functional and esthetic reconstruction of the face. We report a case of HFM with a review of the literature.
Child ; Cleft Lip ; Cleft Palate ; Congenital Abnormalities ; Ear ; Female ; Follow-Up Studies* ; Genioplasty ; Goldenhar Syndrome* ; Humans ; Mandible ; Osteogenesis, Distraction ; Polyethylene ; Skeleton

BACKGROUND: The aim of this study was to present three-dimensional (3D) structural characteristics of the mandible in the hemifacial microsomia. The mandible has six distinct functional units, and its architecture is the sum of balanced growth of each functional unit and surrounding matrix. METHODS: In order to characterize the mandibular 3D architecture of hemifacial microsomia, we analyzed the mandibular functional units of four hemifacial microsomia patients using the 3D reconstructed computed tomography (CT) images. And we compared the functional unit size between affected and non-affected side. RESULTS: The length of condyle and angle showed significant differences between affected and non-affected sides. However, the length of mandibular body showed insignificant differences. The size differences between affected and non-affected side were observed at the condyle, angle, and body in descending order. CONCLUSIONS: This preliminary study suggests that the main etiopathogenic units are condyle and angle in the hemifacial microsomia mandible. Further investigation with the increased number of subjects will be helpful to establish treatment modality by etiopathogenic targeting of hemifacial microsomia.
Goldenhar Syndrome* ; Humans ; Mandible

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.
Anal Canal ; Animals ; Anus, Imperforate ; Cats ; Diagnosis, Differential ; Ear ; Embryonic Development ; Eye Abnormalities ; Family Characteristics ; Female ; Goldenhar Syndrome ; Hearing Loss, Sensorineural ; Humans ; Mothers ; Physical Examination ; Polydactyly ; Pregnancy ; Thumb ; Transcription Factors

Oculo-auriculo-vertebral spectrum (OAVS), also known as Goldenhar syndrome, hemifacial microsomia, oculo-auriculo-vertebral dysplasia and facio-auriculo-vertebral spectrum, is a developmental disorder associated with the first and second branchial arches. Most cases are sporadic, while some familial instances observed suggested that the etiology of OAVS heterogeneous. In this review, we summarize the OAVS epidemiology, classification and mainlyheterogeneous etiology.
Goldenhar Syndrome ; pathology ; Humans

PURPOSE: Expression patterns, associated anomalies and progress of the patients with Goldenhar syndrome from the neonatal period were systematically investigated. This allows us to evaluate the need for early diagnosis. METHODS: This is a retrospective study of 29 infants with Goldenhar syndrome whose diagnosed in Samsung Medical Center between 1994 and 2013. Associated anomalies and procedures between neonatal group (n=13) and non-neonatal group (n=16) were systematically compared. RESULTS: Mean gestational age in the neonatal group were 38+1+/-2+4 weeks and 3 patients (23%) were preterm infants. The average birth weight in the neonatal group were 2,853+/-544 grams. Goldenhar syndrome was mainly diagnosed by ear and face anomalies during the neonatal period. The associated anomalies in neonatal group were cardiovascular anomaly (54%), genitourinary anomaly (30%), vertebral anomaly (15%), and others (31%). About 40% of patients who had long-term follow-up revealed hearing abnormalities and about 1/4 of all patients had bilateral hearing problem, which resulted in requiring hearing aid devices. In addition, the most common procedure performed during follow-up was preauricular skin tag removal. And other procedures or surgery related to oral, eyes, and others were performed in each 1/4 of the patients. Cardiac surgery was done in 15% of total patients. Frequency of associated anomalies and performed procedures between the patients diagnosed at neonatal and non-neonatal period was not significantly different. CONCLUSION: A multidisciplinary approach should be undertaken by multi-departments when evaluating patients with Goldenhar syndrome. In particular if the patient has an ear anomaly, careful hearing test is required in early life.
Birth Weight ; Ear ; Early Diagnosis ; Follow-Up Studies* ; Gestational Age ; Goldenhar Syndrome* ; Hearing ; Hearing Aids ; Hearing Tests ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Retrospective Studies ; Skin ; Thoracic Surgery

OBJECTIVETo analyze the effect of mandibular distraction on the maxilla growth in children with hemifacial microsomia through measurement with the posterior-anterior cephalometric X-ray films and Three-dimensional CT reconstruction images.

METHODSThe deviation angular of maxilla occlusion plane and nasal base plane from the infra-orbital plane were measured on the posterior-anterior cephalometric X-ray films in 22 patients before and half a year after operation. The vertical distance from the midpoint of 5th teeth alveolar and the lowest point of maxillary sinus to reference plane were measured on 3D reconstruction images in 15 patients. The data were statistically analyzed.

RESULTSOn posterior-anterior cephalometric X-ray films, the cant of occlusion plane were significantly reduced (P < 0.05), While the angular of nasal base plane and the infra-orbital plane had no significant change. On 3D reconstruction images, all the detection points had significantly declined except the lowest point of maxillary sinus on normal side.

CONCLUSIONSDistraction osteogenesis of mandible can promote the growth of the maxilla in children with HFM, the accelerated growth parts include alveolar bone and maxillary sinus.

Child ; Dental Occlusion ; Goldenhar Syndrome ; surgery ; Humans ; Mandible ; surgery ; Maxilla ; growth & development ; Osteogenesis, Distraction