• Title/Summary/Keyword: Multiple abnomalities

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A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

  • Cho, Joo Hyun;Song, Eun Song;Kim, Hee Na;Oh, Burm Seok;Choi, Young Youn
    • Clinical and Experimental Pediatrics
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    • v.57 no.6
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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.

ORTHROGNATHIC SURGERY IN SEVERE CHRONIC RENAL FAILURE PATIENT (중증의 만성신부전 환자에서의 악교정 수술)

  • Shin, Sang-Hun;Kim, Ki-Hyun;Jeung, Suck-Young;Park, Sung-Hwan;Kim, Cheol-Hun
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.26 no.6
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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.

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A Case of Henoch-Schonlein Purpura Nephritis Complicating Encephalopathy Accompanied by Hypertension and Cerebral Vasculitis (고혈압과 뇌혈관염이 동반된 상태에서 뇌증을 보인 Henoch-Schonlein Purpura Nephritis 1례)

  • Choi, Hee Ra;Kim, Eo Jin;Choi, Myoung Bum;Lim, Jae Young;Park, Chan Hoo;Woo, Hyang Ok;Youn, Hee Sang
    • Clinical and Experimental Pediatrics
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    • v.46 no.10
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    • pp.1040-1043
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    • 2003
  • Henoch-Shonlein purpura(HSP) is a systemic small-vessel vasculitis that primarily affects the skin, gastrointestinal tract, joints, and kidneys. The nervous system may be involved, less commonly than other organs. When the central nervous system(CNS) was involved, headache, changes in mental status, seizures, and focal neurologic deficits have been reported. Hypertension, uremic encephalopathy, metabolic abnomalities, electrolyte abnormalities, or cerebral vasculitis were suggested as possible causes of the neurologic manifestation. Diagnosis of vasculitic involvement of CNS is difficult. Magnetic resonance imaging of the brain is the modality of choice for the evaluation of the CNS disease. Steroid or plasmapheresis are used in treatment of cerebral vasculitis. We experienced a case of 9-year-old boy who had presented with Henoch-Schonlein purpura nephritis complicating encephalopathy accompanied by hypertension and cerebral vasculitis. Brain MRI showed multiple small nodular-linear pattern enhancing lesions in whole cerebral hemispheres and focal increased T2 signal in the right basal ganglia. We used intravenous immunoglobulin in treatment of cerebral vasculitis. We report this case with a brief review of related literature.