• Tuberculosis and Respiratory Diseases
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• v.43 no.5
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• pp.805-811
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• 1996

Congenital cystic adenomatoid malformation of the Lung(CCAM) is characterized by anomalous fetal development of terminal respiratory structures, resulting in an adenomatoid proliferation of bronchiolar elements and cystic formation. CCAM was first described and differentiated from other cystic lung disease in the English literature by Ch'in and Tang in 1949. CCAN is a rare, potentially lethal form of congenital pulmonary cystic disease and the salient features of lesion are an irregular network of terminal respiratory bronchiole-like structures and macrocysts variably lined by pseudostratified ciliated columnar epithelium and simple cuboidal epithelium. Adult presentation of CCAM of the lung is so rare that only 9 cases have been reported in the literature of date. The pathogenesis of CCAM remains disputed and reseachers have variously proposed that the lesion represents a developmental anomaly, hamartoma, or a fonn of pulmonary dysplasia. Van Dijk and Wagenvoort divided CCAM into three subtypes : cystic, intermediated, and solid. These correspond to types I, II, and III of Stocker. In adults, the evaluation of cystic or multi cystic lung disease requires consideration of a differential diagnosis including the acquired lesions of lung abscess, cavitary neoplasm or inflammatory mass, bullous disease, bronchiectasis, and postionflammatory pneumatocele. Congenital lesions such as sequestration, bronchopulmonary-foregut anomalies, and bronchogenic cyst are also encounted. The definitive treatment for CCAM is complele removal of the involved lobe. Panial lobectomy leads to multiple complications, including severe post-operative infection. We report a case of CCAM in a 14-year-old female presentated with a pneumothorax and large bullae, who was treated by surgical remove of the involved lobe.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• Journal of the korean academy of Pediatric Dentistry
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• v.24 no.1
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• pp.19-26
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• 1997

Odontodysplasia is a rare developmental anomaly of tooth formation in which hard tissue are affected. Odontodyplasia affects the primary and permanent dentitions in the maxilla, mandible, or both jaws. The maxilla is involved twice as often as the mandible. The condition is more common in female than in male patients and in the anterior than in the posterior regions. The clinical manifestation of odontodysplasia are hypoplasia and hypocalcification of the enamel and dentin of affected teeth. Teeth tend to be small and discolored, with short roots and widely open pulp canal. Delayed eruption of affected teeth with abscess formation is common. Radiographically teeth assume a faint radiolucent image ("ghost teeth"). enamel and dentin appear thin and are similar in radiodensity. The pulp chambers are often larger than normal, calcifications(pulp stone and denticle) are found within them. The etiology of regional odontodysplasia is unknown. However, several causes have been discussed, including somatic mutation, local circulatory disorders, local trauma, failure of migration and differentiation of neural crest cells, local infection.

• Journal of Chest Surgery
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• v.9 no.2
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• pp.169-174
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• 1976

Since. its first description by Albrecht in 1904 that hamartoma (Greek. meaning "error" and "tumor")is tumor-like malformation characterized by abnormal mixture of normal constituent in any organ it arises, hamartoma involving the lung has assumed the following clinical features.: 1) all the pulmonary lesions presenting as "coin lesions", it occupies about 8% according to various reports. It also constitutes the most prevalent lesion of all the benign lung tumors, appearing in 0.25% of the general population. 2) Peak incidence of the lesion occurs in the 5th and 6th decade as the carcinoma patient do, and the occasional growing tendency and periperal location as in this presentation renders the differential diagnosis from the malignant disease difficult and surgical intervention inevitable for definite histological diagnosis and treatment. 3) Nearly all the clinical investigations such as history, physical exam, bronchoscopy, culture, and cytological exam of sputum sre likely to futile:the only tool for detecting the presence of the lesion is X-ray, butthat's short of telling the true nature of it. 4) Because of its age of presentation and growing tendency in middle-aged adult, it still controversial whether it is developmental anomaly as Albrecht described, or true neoplasm denovo of fibrous connective tissue origin. This is a case report of surgical experience of pulmonary hamartoma which had nearly all the typical clinical features above mentioned and was reviewed with related literatures.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.108-111
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• 2005

Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to-end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature.

• Journal of Chest Surgery
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• v.28 no.5
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• pp.447-452
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• 1995

From January 1983 to December 1992, 116 patients under 10Kg of body weight were underwent open heart surgery in National Medical Center.There were 64 males and 52 females, and their mean age was 14 2.6 months, ranged from 3 days to 38 months. Their mean body weight was 7.4$\pm$1.2Kg, ranged from 2.4Kg to 10Kg which were less than 3 percentile of normal developmental pattern in 109 out of 116 cases.The composition of the patients was VSD[73 , TOF[18 , ASD[8 , ECD[5 , TGA[4 , PS[3 , TAPVC[2 , TA[1 , cardiac rhabdomyoma with ASD[1 , and Ebstein`s anomaly[1 . The overall surgical mortality was 17.2%.In acynotic group, 11 patients died among 91 patients and the mortality was 12.1%, in cyanotic group 9 patients died among 25 patients, the mortality was 36%.The surgical result of patients under 5Kg of body weight was worse than those over 5Kg of body weight. [56.2% versus 11% The surgical result in this period was improved year by year, but poor surgical results in the group of cyanotic, under 5Kg of body weight should be improved by means of more precise preoperative diagnoses, more advanced surgical techniques and more proper postoperative management.

• Journal of Korean Neurosurgical Society
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• v.30 no.12
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• pp.1422-1426
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• 2001

Neurenteric cysts are developmental cysts derived from embryonic endodermal layers. Fewer than 100 have been reported in which there were no associated bone or soft-tissue malformations and only six among those cases showed intramedullary location in the literatures. The authors report a 16-year-old young man with a thoracic intramedullary neurenteric cyst which presented with symptoms of axillary pain and paraparesis. The magnetic resonance imaging showed intramedullary mass extended from level of T3 to T7. There was no associated bone or soft-tissue anomaly. This cyst was partially excised and marupialized into subarachnoid space. The pathological findings were compatible with neurenteric cyst. Nine months later, the cyst recurred and at second operation, cyst wall was removed completely.

• Investigative Magnetic Resonance Imaging
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• v.11 no.1
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• pp.49-53
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• 2007

Fibrous dysplasia is a skeletal developmental anomaly of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. It is a nonhereditary disorder of unknown cause. In fibrous dysplasia, the medullary bone is replaced by fibrous tissue, which appears various imaging findings. It is usually an incidental finding, generally not requiring further investigation. However, fibrous dysplasia may be complicated by pathologic fracture, and rarely by malignant degeneration. We present the image findings of a 44-year-old man who had a chondroblastic osteosarcoma arising from polyostotic fibrous dysplasia in the femur. Evidence of cortical destruction on plain radiography and soft tissue mass in the lesion on MR images suggested a tumor of malignant transformation.

• Journal of Periodontal and Implant Science
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• v.39 no.4
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• pp.425-429
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• 2009

Purpose: The palatogingival groove is a developmental anomaly of the incisor teeth, which often presents severe localized periodontal disease. The purpose of this study was to evaluate the clinical outcome of palatogingival groove-associated periodontal lesion following flap operation with glass ionomer filling. Methods: Four patients with periodontal lesion associated with the palatogingival groove were chosen for this case study. Clinical indices were taken and radiographic exam was performed at the baseline of the study and four patients were treated by flap operation with GI filling. Post-surgical visits were scheduled at regular intervals to check clinical and radiographic changes. Results: Symptoms and signs of periodontal lesion were almost completely resolved with improvement of periodontal indices. Conclusions: Flap operation with direct glass ionomer restoration is thought to be an acceptable method which can produce favorable results in the treatment of periodontal lesion caused by palatogingival groove on the maxillary lateral incisor.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.1
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• pp.79-82
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• 2002

Intestinal malrotation is a developmental anomaly resulting from embryologic failure of fixation and rotation of the gut and predisposed to midgut volvulus and small bowel obstruction. Acute midgut volvulus is most often encountered in the newborn period. But older children and adults may have a history of intermittent episodes of partial volvulus presenting with recurrent colicky abdominal pain accompanying bilious vomiting. We experienced a case of intestinal malrotation complicated by midgut volvulus presented with recurrent vomiting and abdominal pain in a 6-year-old boy.