• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제26권6호
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• pp.652-657
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• 2000

The kidneys play a vital role in the maintenance of normal body fluid volumes and in the composition of the extracellular fluid compartments. There are normally more than 2 million functioning glomeruli that regulate total body water and solute concentrations. As renal failure progresses, there is a decrease in the number of functioning nephrons. Chronic renal failure(CRF) is the consequence of a multitude of diseases that cause permanent destruction of the nephron. Azotemia is an elevation in blood urea nitrogen(BUN) and serum creatinine levels subsequent to a decreased glomerular filtration rate(GFR), which results in uremia. This loss of renal function can cause functional and metabolic abnomalities of body. For this problem, oral & maxillofacial surgeons have demanded to routinely treat patients with CRF. However, there has not been a reported case of orthognathic surgery by bilateral sagittal split ramus osteotomy(BSSRO) in patients with CRF, which can cause multiple complications in healthy patients. We report developmental mechanism of complication associated with CRF and preop. and postop. care of orthognathic surgery by BSSRO in Cl III patient with severe chronic renal failure.

• Clinical and Experimental Pediatrics
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• 제46권10호
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• pp.1040-1043
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• 2003

저자들은 9세 남아에서 고혈압과 뇌혈관염이 동반된 상태에서 뇌증을 보인 HSP 신염 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.