• Anatomy and Cell Biology
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• 제56권4호
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• pp.584-587
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• 2023

Polymelia is an extremely rare congenital anomaly where an individual is born with an abnormally developed extra or supernumerary limb which is generally shrunken and functionless. A case of thoracomelia (a type of polymelia) was observed macroscopically and confirmed radiologically in 1.5 years old boy born in Nepal with an abnormal supernumerary upper limb attached to his back in the thoracic region. The limb was successfully amputated, and the boy had a favorable outcome after surgical treatment, without any adverse effects or impairment. Understanding the embryogenesis of thoracomelia is essential for unraveling the complex mechanisms underlying this condition and potentially aiding in early diagnosis and intervention. This case report and review aims to shed light on the intricate processes governing forelimb formation and their perturbations leading to thoracomelia.

• 대한융합한의학회지
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• 제1권1호
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• pp.5-15
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• 2021

Objectives: To review the concept of Moebius syndrome. Methods: Literature search was done to study definition, epidemiology, pathophysiology, clinical feature, and treatment of Moebius syndrome. Pubmed, RISS, Google scholarship and uptodate scholastic were used in the research. Search words were 'Moebius syndrome', 'treatment of Moebius syndrome'. Only English and Korean studies were assessed. Results: Moebius syndrome is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (VII cranial nerve) and abducens (VI cranial nerve) palsy. This facial palsy is found across the world, and its incidence is approximately 1 per 250,000. Moebius is diagnosed by clinical features. Facial palsy, eye abduction problem, limb deformities, global cerebral nerve impairment can be shown. Rehabilitation, smile surgery, and acupuncture can be used to treat this. Conclusion: Moebius syndrome's epidemiology, pathogenesis, treatment is still not fully revealed. It is known to be a congenital disease which didn't have exact treatment except surgery. But, it needs further study about exact treatment, diagnosis, and pathogenesis.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.123-127
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• 2015

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.

• 대한통합의학회지
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• 제9권4호
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• pp.85-89
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• 2021

Background : Klippel-Trenaunay-Weber syndrome (KTS) is a rare congenital medical condition characterized by complex vascular malformation. KTS consists of a classic triad of capillary malformation (hemangioma), venous malformations and bone or soft tissue hypertrophy causing limb asymmetry. The aim of this report is to describe management for gait disturbance and foot pain in a Patient with KTS using custom-made total contact insole. Case presentation : A 32-year-old man with KTS presented with a 3-year history of gait disturbance on hard surface due to right first toe pain and Achilles tendon tightness. The patient had soft tissue hypertrophy, varicose veins and port-wine stains over the right lower limb associated with KTS. True leg length discrepancy was 2 cm. We prescribed custom-made total contact insole to protect his deformed foot and correct leg length discrepancy. The insole of right side included wedge shaped heel lift and the insole of left side included full length lift to add extra support on unaffected side. Also, we provided compression stocking and physiotherapy including manual lymphatic drainage for lymphedema and stretching exercise for tightness in right lower extremity. At 3 years follow-up, postural alignment including pelvic obliquity was improved using a custom-made total contact insole. The degree of scoliosis and foot pain were also reduced. Conclusion : An individualized and multidisciplinary approach is essential regarding the complexity of comorbidities in patients with KTS. For patients with KTS, orthotic management should be considered to prevent and correct deformities related to KTS. Active orthotic management, compression stocking and physiotherapy can enhance the quality of life and function in patients.

• Archives of Plastic Surgery
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• 제42권4호
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• pp.391-406
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• 2015

Macrodystrophia lipomatosa (MDL) is a rare congenital non-hereditary disorder that has significant impact on patient morbidity. This study provides a comprehensive review of the natural history, diagnosis, management, and outcomes of the disorder. A literature search in PubMed was conducted to identify cases of MDL from January 1950 to 14 February 2014. After ruling out articles without information related to the management of the disorder, a summary of 32 studies was performed. An additional three cases from the authors are also presented. Based on 57 journal articles and three additional cases from the authors, around 108 cases of MDL were reviewed. Most patients were males who were admitted to a treatment clinic in the first four years of life. The lower extremities were more frequently affected, with unilateral presentation being most common. They commonly underwent a single-staged surgical procedure with follow-up periods ranging from more than one year up to 21 years. Out of 43 cases that underwent surgical procedures, 13 reported no complications, and there were seven cases of esthetic satisfaction and 15 cases of significant functional improvement. Depending on the severity of a patient's condition, the use of non-invasive diagnostic tools should be carefully considered. Surgery might be a better choice of management than observation, taking into account possible future complications in the absence of surgery and the beneficial outcomes of surgical procedures.