• Journal of Veterinary Clinics
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• v.36 no.2
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• pp.112-115
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• 2019

An 11-month-old, 5.6 kg, grade 4 on a 5-point scale body condition score, castrated male Korean short hair cat was presented with right hindlimb lameness for 3 days without trauma. On physical examination, severe pain with crepitation was elicited at the hip region but not at the stifle. Radiographic examination and computed tomography revealed a Salter-Harris type 1 fracture of the femoral capital physis and dysplasia of the proximal tibial epiphysis. Spontaneous femoral capital physeal fracture was suspected and femoral head and neck osteotomy was performed. Treatment for proximal tibial dysplasia was not performed. On histopathologic examination of femoral head, a cluster of chondrocytes in a proliferative zone at the epiphyseal plate was observed. Therefore, spontaneous femoral capital physeal fracture was diagnosed. The patient recovered his gait, and no related clinical signs were observed during 6 months of follow-up.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.15 no.1
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• pp.308-314
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• 2002

Multiple epiphyseal dysplasia is an uncommon disorder, which was first described by Fairbank in 1935, characterized by irregularity in development of the epiphysis that manifests itself as late appearance and mottling of the ossification centers, knobby joints, stubby digits and minimal shortness of stature. It is typically transmitted as an autosomal dominant trait though recessive forms have been described. The diagnosis is established on the basis of the positive roentgenographic findings in combination with the absence of biochemical abnormalities. We report a case of multiple epiphyseal dysplasia, which was improved by herbal medication.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.31-34
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• 2012

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.81-86
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• 2009

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.49-54
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• 2015

Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

• Journal of Korean Orthopaedic Sports Medicine
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• v.8 no.1
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• pp.60-63
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• 2009

Trevor's disease, also known as dysplasia epiphysealis hemimelica, is rare abnormality characterized by aberrant cartilaginous overgrowth forming one half of epiphysis. Typically the patient is 2 to 14 years of age. Until now only six cases, including a case recurred after surgery, have been reported in Korea. A seven year-old boy complained pain of the left knee. However, any deformity of the knee was not seen. The plain radiographic findings showed multiple ossifications asymmetrically on the medial epiphysis of distal femur. The magnetic resonance imaging (MRI) clearly demonstrated the epiphyseal mass which contained low signal spots corresponding to calcified foci and abnormal cartilaginous overgrowth. We report one additional case with a brief review of literature with the MRI findings.

• Journal of the Korean Society of Radiology
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• v.85 no.3
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• pp.531-548
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• 2024

Developmental dysplasia of the hip is a condition characterized by hip joint instability due to acetabular dysplasia in infancy, necessitating precise ultrasound examination. Legg-Calvé-Perthes disease is caused by a temporary disruption in blood flow to the femoral head during childhood, progressing through avascular, fragmentation, re-ossification, and residual stages. Slipped capital femoral epiphysis is a condition where the femoral head shifts medially along the epiphyseal line during adolescence due to stress, such as weight-bearing. Differentiating between transient hip synovitis and septic arthritis may require joint fluid aspiration. Osteomyelitis can be associated with soft tissue edema and osteolysis. When multiple lesions are present, it is essential to distinguish between Langerhans cell histiocytosis and metastatic neuroblastoma. This review will introduce imaging techniques and typical findings for these conditions.