• Clinical and Experimental Pediatrics
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• v.54 no.5
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• pp.219-223
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• 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

• Archives of Craniofacial Surgery
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• v.24 no.1
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• pp.18-23
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• 2023

Background: When performing reduction of zygomatic arch fractures, locating the inward portion of the fracture can be difficult. Therefore, this study investigated the discrepancy between the locations of the depression on the soft tissue and bone and sought to identify how to determine the inward portion of the fracture on the patient's face. Methods: We conducted a retrospective review of chart with isolated zygomatic arch fractures of type V in the Nam and Jung classification from March 2013 to February 2022. For consistent measurements, a reference point (RP), at the intersection between a vertical line passing through the end point of the root of the ear helix in the patient's side-view photograph and a transverse line passing through the longest horizontal axis of the external meatus opening, was established. We then measured the distance between the RP and the soft tissue depression in a portrait and the bone depression on a computed tomography (CT) scan. The discrepancy between these distances was quantified. Results: Among the patients with isolated zygomatic arch fractures, only those with a fully visible ear on a side-view photograph were included. Twenty-four patients met the inclusion criteria. There were four types of discrepancies in the location of the soft tissue depression compared to the bone depression: type I, forward and upward discrepancy (7.45 and 3.28 mm), type II, backward and upward (4.29 and 4.21 mm), type III, forward and downward (10.06 and 5.15 mm), and type IV, backward and downward (2.61 and 3.27 mm). Conclusion: This study showed that discrepancy between the locations of the depressions on the soft tissue and bone exists in various directions. Therefore, applying the transverse and vertical distances measured from a bone image of the CT scan onto the patient's face at the indicated RP will be helpful for predicting the reduction location.

• Annals of Rehabilitation Medicine
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• v.42 no.6
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• pp.884-887
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• 2018

We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2-C3, agenesis of the right articular process of C5, bony fusion of C4-C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.

• Archives of Craniofacial Surgery
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• v.22 no.1
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• pp.52-55
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• 2021

Complete surgical excision within a margin of normal healthy bone is the treatment of choice for intraosseous hemangioma. A 56-year-old man visited with complaints of a firm, mildly tender, immovable, and palpable mass on the right forehead (size: 1.5×1.5 cm). Non-contrast brain computed tomography performed preoperatively revealed a 1.5 cm heterogenous osteolytic lesion with suspected internal trabeculation in the right frontal bone. Under general anesthesia, a 2 cm transverse incision was made on the forehead skin rather than bicoronal incision. Full-thickness en bloc resection of the frontal bone including the mass was performed. The frontal bone was removed with care taken not to damage the frontal sinus mucosa. The frontal sinus was sealed with a collagen patch (Tachocomb) and a cranioplasty was performed using bone cement. At 6 months postoperative, a clean wound was confirmed without any complications, and there was no local recurrence. Surgical excision of intraosseous hemangioma in the frontal sinus bone can be performed via direct incision or the bicoronal approach. In this case, the direct incision approach was used to achieve smaller scars and faster recovery than the bicoronal approach.

• Archives of Craniofacial Surgery
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• v.24 no.3
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• pp.124-128
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• 2023

Morbihan disease (MD) is a very rare condition characterized by rosaceous or erythematous lymphedema on the upper two-thirds of the face. A definitive management strategy for MD is lacking, and treatment is challenging. Herein, we present a case of persistent bilateral eyelid edema treated by lymphaticovenular anastomosis (LVA) and lymph node-vein bypass surgery. The patient experienced persistent bilateral eyelid edema. Indocyanine green lymphography was performed, and the diagnosis of bilateral facial lymphedema was confirmed. On the right side, a preauricular lymphatic vessel was anastomosed to a vein. On the left side, lymphostomy on the preauricular lymph node was done, with anastomosis to the transected proximal end of the concomitant vein of the transverse facial artery. Furthermore, a preauricular lymphatic vessel was anastomosed to a vein. Eyelid edema decreased and progressively improved on both sides. The outcome of this case suggests that LVA and lymph node-vein bypass surgery are appropriate for treating persistent eyelid edema related to MD.

• Archives of Craniofacial Surgery
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• v.25 no.2
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• pp.85-89
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• 2024

Postoperative atlantoaxial rotatory subluxation (AARS) is a rare complication that develops almost exclusively in children following oropharyngeal and otologic surgeries, proposing that oropharyngeal inflammatory responses and excessive head rotation are responsible factors. However, there have been no reports of AARS after excision of a nevus on the head and neck. Here, we present two cases of AARS following limited head rotation during simple nevus excision. Patient 1, a 9-year-old girl, complained of neck pain and limited range of motion after excision of the nevus on the neck. After 2 months, computed tomography and magnetic resonance imaging finally revealed AARS with a ruptured transverse atlantal ligament. A month of halo traction was required for the treatment. Patient 2, an 11-year-old girl, presented with immediate pain and limited neck extension after tissue expander insertion under the upper chest and excision of the nevus on her left cheek. The diagnosis was promptly made using cervical spine radiography. A cervical collar was applied for 1 month. Both patients recovered without any complications after treatment. This report highlights the importance of suspicion for AARS after surgery regardless of surgical duration or amount of head rotation.

• Archives of Craniofacial Surgery
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• v.22 no.4
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• pp.177-182
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• 2021

Background: Although prompt surgery after an orbital fracture is preferable, the actual timing of surgery in real-world settings varies. Therefore, this study investigated the outcomes of implant surgery for inferior orbital wall fractures by comparing three groups according to the time interval between the injury and surgery. Methods: A retrospective review was conducted of patients' medical charts and initial computed tomography images from 2009 to 2020. The time to treatment was chosen by patients or their guardians based on the patients' comorbidities and the physician's explanation. The patients were divided into three groups according to the time of surgery (group 1: 3-7 days, group 2: 8-14 days, group 3: 15 or more days). Data were collected on age, the time interval until surgery, the dimensions of the defect, the operation time, the follow-up period, and the postoperative paresthesia score (ranging from 0 to 10). The outcomes were evaluated using a 4-point scale: 4=good (no complications), 3=fair (no subjective symptoms), 2=poor (remaining paresthesia), and 1=very poor (strabismus and/or enophthalmos). Results: The study included 85 patients with unilateral fractures who underwent surgery from 3 to 93 days after injury. The overall score distribution of the surgical outcomes was as follows: good=63, fair=7, poor=6, and very poor=9. The three groups showed no significant differences in the transverse dimension of the injury (p=0.110) or the anteroposterior dimension (p=0.144). In groups 1, 2, and 3, the postoperative outcome scores were 3.84±0.37, 3.63±0.87, and 2.93±1.33 (p=0.083), and the percentage of patients with good outcomes was 84%, 81.25%, and 57.14%, respectively. Conclusion: Performing surgery using an artificial implant within 2 weeks of the injury showed better outcomes and fewer postoperative complications than when treatment was delayed.

• Journal of Korean Orthopaedic Sports Medicine
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• v.8 no.1
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• pp.33-38
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• 2009

Purpose: We wanted to report the clinical characteristics and arthroscopic findings of radial tear in medial meniscus posterior horn insertion, commonly occurs in patient over middle age with documentary review. Materials and Methods: Retrograde study using hospital records was done to 40 cases in 40 patients who visited our hospital and had been performed knee arthroscopic surgery due to medial meniscus posterior horn insertion tear between January, 2005 to April, 2007. Seven cases were male and 33 cases were female with the mean age of 61 (range, 47-80). Trauma history, stage of arthritis, period between pain and operation, MRI findings, clinical symptoms and operation methods were evaluated. Results : Six cases had trauma history while 34 cases didn't. In simple x-ray, using Kellgren-Lawrence classification, 31 cases were between stage 0 and II while 9 cases were stage III. In arthroscopic exam, there were 17 cases of Outerbridge grade IV, 4 cases of grade III, 9 cases of grade II, 9 cases of grade I. The mean duration of pain was 5.3 months. In MRI, at least one finding of cleft in axial or coronal view or ghost sign in sagittal view was found in all cases. The shape of meniscus tears were blunt in 18 cases, transverse in 12 and degenerative tear in 10. Subtotal meniscectomy was performed in 16 cases, partial meniscectomy in 10 cases and meniscal repair in 14 cases. Conclusion : Medial meniscus posterior horn insertion tear occurs in patients over middle age is rarely related to trauma history but causes painful mechanical symptom and usually accompany arthritis. Meniscectomy can be done for the treatment but repair can be considered is some cases. Further study on the treatment result will be needed.