• Journal of Veterinary Clinics
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• v.24 no.3
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• pp.444-448
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• 2007

An intact female, 2 month old, domestic short hair cat, weighing 0.82kg with a history of respiratory distress, anorexia, and depression for 3 days was referred. In laboratory examination, there were no remarkable abnormalities. Radiographic findings mainly included pleural effusion, dilation of pulmonary vessels, pulmonary edema, and ascites. Echocardiography showed dilation of four cardiac chambers, malformation of the tricuspid and mitral valve, and atrioventricular valve regurgitant jet flow. The cat was euthanized by client's request and confirmed to the tricuspid and mitral valve dysplasia by necropsy and histopathologic examination.

• Journal of Korean Neurosurgical Society
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• v.56 no.3
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• pp.281-283
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• 2014

McCune-Albright syndrome (MAS) is characterized by a triad of poly/monostotic fibrous dysplasia, caf$\acute{e}$-au-lait macules and hyperfunctioning endocrinopathies including human growth hormone excess. Acromegaly as a manifestation of endocrine hyperfunction with MAS is uncommon. Surgical excision may be challenging due to the associated severe fibrous dysplasia of the skull base. Through the endoscopic procedures, we treated a case of MAS presenting with compressive optic neuropathy due to fibrous dysplasia and acromegaly caused by growth hormone secreting pituitary adenoma. We reviewed the literature on GH excess in MAS to highlight its surgical and medical challenges.

• Journal of Interdisciplinary Genomics
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• v.3 no.2
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• pp.30-34
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• 2021

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.

• Journal of Korean Dental Science
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• v.6 no.1
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• pp.34-40
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• 2013

Fibrous dysplasia is a benign fi bro-osseous lesion wherein normal bone is replaced with an excessive proliferation of cellular fibrous connective tissue intermixed with irregular bony trabeculae. Fibro-osseous lesions like fibrous dysplasia are often associated with non-epithelial cysts, such as simple bone cyst. The etiologic and pathogenic relationships between fi brous dysplasia and simple bone cyst have not been conclusively established. Nonetheless, the mechanism of cyst formation in fibro-osseous lesion associated with simple bone cyst can be said to differ from that of the typical simple bone cyst of the jaws. This article reports a case of bilateral lesions including fi brous dysplasia and simple bone cyst on each site and reviews the pathogenesis of cyst formation in the fibro-osseous lesion.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.12 no.3
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• pp.68-73
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• 1990

Fibrous dysplasia is an idiopathic skeletal disorder in which medullary bone is replaced and disturbed by poorly organized, structually unsound fibroosseous tissue, which may produce cortical expansion. When facial bones are involed, considerable esthetic deformity may result. The term monostotic fibrous dysplasia has been applied when one bone is involved : when more than one bone is affected, the term polyostotic used. The polyostotic form may be accomplished by pigmented skin lesion (Jaffe type), or by pigmented skin lesions with endocrine disturbance (Albright syndrome). No general agreement exists on the cause of fibrous dysplasia. A few authors have suggested that fibrous dysplasia arises as a resujlt of trauma. It occurs predominantly in infant, adolescent females and runs a variable clinical course. When several bones are involed, it tends to be unilateral. Involements of alveolar bone may produce displacement of teeth with malocclusion, or loss of teeth, or both. Radiographycally, it shows an indistinctly delimited osteolytic defect with a bubble - like pattern, but without a sclerotic rim. The preferred treatment is almost always surgery. If the lesion is extensive, surgical intervention with use of recontouring procedures aimed at the correction of esthetic or funtional disturbances is preferred treatment. Now, we present a case of fibrous dysplasia on the left maxilla and the zygoma treated by bony contourign via hemicoronal flap and intraoral approach with good results.

• Journal of Veterinary Clinics
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• v.32 no.1
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• pp.101-104
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• 2015

A 4-years-old, intact male Golden retriever dog was presented with abdominal distension and dyspnea. Physical examination revealed arrhythmia and cardiac murmur. Generalized cardiomegaly, pleural effusion and ascites were shown on thoracic and abdominal radiographs. Two-dimensional echocardiography revealed abnormal mitral and tricuspid valve motion, mitral and tricuspid regurgitation, left ventricular eccentric hypertrophy and left atrial dilation. Color-flow Doppler imaging revealed turbulent flow extending into the left ventricle during diastole from the mitral valve orifice, and into the left atrium during systole. Spectral Doppler recordings revealed highly increased early diastolic mitral valve inflow and prolonged pressure half-time of mitral inflow. Based on the echocardiographic examination, the diagnosis was made as the mitral valve dysplasia concurrent with mitral valve stenosis and tricuspid valve dysplasia.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.23-27
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• 2017

Ectodermal Dysplasia is a genetic disorder caused by the abnormal development of two or more structures derived from the ectodermal layer. As an aspect in dentistry, ectodermal dysplasia is characterized by hypodontia, conical or peg-shaped teeth, reduced salivary secretion and decreased vertical dimension. These unfavorable oral conditions make children to have difficulties with mastication, esthetics, and even in social activities. This case report presents an alternative oral rehabilitation treatment of a 4-year-old boy with ectodermal dysplasia. A removable space maintainer with artificial teeth in maxillary arch was delivered according to the initial treatment plan. However, the child failed to adapt the appliance because of his masticatory habit. Then a fixed-type space maintainer was delivered on the patient's esthetic demand and it restored function, esthetics and self-esteem of the patient. The treatment described here suggests that individually customized considerations are essential for the oral rehabilitation of a patient with ectodermal dysplasia.

• Archives of Plastic Surgery
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• v.34 no.3
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• pp.403-405
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• 2007

Purpose: Malignant degeneration of fibrous dysplasia is an uncommon recognized complication of this disease. Especially, degeneration of fibrous dysplasia to malignant fibrous histiocytoma(MFH) in facial bone is rare and the publications had been limited. The purpose of this report is to share our experience. Methods: A 46-year-old patient with facial fibrous dysplasia visited our clinic for recent facial tingling and swelling. Malignant degeneration of fibrous dysplasia was suspected. Results: Total excision of the mass and adjacent facial bone was performed. Defect was immediately reconstructed with bone graft and bone cement. At a month follow up, metastasis was detected at ipsilateral parotid gland. Superficial parotidectomy and neck dissection was performed. The patient is currently taking chemotherapy. Conclusion: Because of the uncommon presentation of this entity, clinical course of treatment was dependent on other histological types of malignant degeneration. We report this case to share our experience.

• Neonatal Medicine
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• v.17 no.1
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• pp.141-146
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• 2010

Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large joints. It is diagnosed based on the characteristic clinical and radiological features. Even though benign cases of this disease are frequently reported, metatropic dysplasia can often have a fatal outcome. We describe a sporadic case of the well-delineated lethal metatropic dysplasia.

• Clinical and Experimental Pediatrics
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• v.57 no.4
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• pp.171-177
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• 2014

Purpose: Eosinophilia is common in premature infants, and its incidence increases with a shorter gestation period. We investigated the clinical significance of eosinophilia in premature infants born at <34 weeks gestation. Methods: We analyzed the medical records of premature infants born at <34 weeks gestation who were admitted to the neonatal intensive care unit at Ewha Womans University Mokdong Hospital between January 2003 and September 2010. Eosinophilia was defined as an eosinophil percentage of >3% of the total leukocytes. Perinatal parameters and clinical parameters were also analyzed. Results: Of the 261 infants born at <34 weeks gestation, 22.4% demonstrated eosinophilia at birth. The eosinophil percentage peaked in the fourth postnatal week at 7.5%. The incidence of severe eosinophilia increased after birth up to the fourth postnatal week when 8.8% of all patients had severe eosinophilia. Severity of eosinophilia was positively correlated with a lower gestational age, birth weight, and Apgar score. Respiratory distress syndrome, bronchopulmonary dysplasia, nephrocalcinosis, intraventricular hemorrhage, and sepsis were associated with a higher eosinophil percentage. The eosinophil percentage was significantly higher in infants with bronchopulmonary dysplasia from the first postnatal week and the percentage was the highest in the fourth postnatal week, with the maximal difference being 4.1% (P<0.001). Conclusion: Eosinophilia is common in premature infants and reaches peak incidence and severity in the fourth postnatal week. The eosinophil percentage was significantly higher in bronchopulmonary dysplasia patients from the first postnatal week. Severe eosinophilia was significantly associated with the incidence of bronchopulmonary dysplasia even after adjusting for other variables.