• Title/Summary/Keyword: familial

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Gardner Syndrome Showing Multiple Osteomas in the Jaws

  • Kim, Yongsoo;Lee, Sun Jae;Baek, Jin-A;Ko, Seung-O;Leem, Dae-Ho
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.35 no.6
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    • pp.421-426
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    • 2013
  • Gardner syndrome, an autosomal dominant inherited condition, is a subtype of familial adenomatous polyposis. It causes lesions in bones, skin, and teeth, as well as multiple gastrointestinal polyps, which, if left untreated, become malignant. Because patients with colorectal cancer have a low survival rate, early diagnosis and treatment of Gardner syndrome is critical. Therefore, the characteristic lesions of Gardner disease that appear on the face, jaws, and oral cavity must be understood; these can be evaluated by oral and maxillofacial clinicians. This report describes a case that was diagnosed and treated earlier with the help of a routine oral and maxillofacial examination and has had a seemingly good prognosis so far.

Isoperistaltic Jejunal Loop Interposition after Total Gastrectomy for Gastric Cancer in Patients with Familial Adenomatous Polyposis

  • Zuin, Matteo;Celotto, Francesco;Pucciarelli, Salvatore;Urso, Emanuele Damiano Luca
    • Journal of Gastric Cancer
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    • v.20 no.2
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    • pp.225-231
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    • 2020
  • Gastric cancer is a rare condition affecting patients with familial adenomatous polyposis (FAP). The mainstay of treatment is total gastrectomy. Since duodenal cancer is the most common cause of death after total colectomy in FAP, endoscopic surveillance for duodenal cancer is mandatory. Here, we describe the use of an isoperistaltic jejunal loop interposition technique to reconstruct the digestive tract after total gastrectomy in 2 patients with FAP. There were no early or late complications. Both patients are still alive and in good clinical condition. They did not experience weight loss or symptoms of dumping syndrome. Duodenal endoscopic surveillance after this technique was easier than after the classical Roux-en-Y reconstruction. Hence, regular follow-up was possible for both patients.

OLIGODONTIA WITH FAMILIAL HISTORY -A case report- (가족력을 동반한 부분적 무치증에 대한 증례보고)

  • Jeong, Hye-Seon;Lee, Jae-Ho;Choi, Hyung-Jun;Choi, Byung-Jai
    • Journal of the korean academy of Pediatric Dentistry
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    • v.24 no.1
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    • pp.179-185
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    • 1997
  • The prevalence of congenital teeth missing is about 2-10% of population and it is more common in permanent dentition than primary dentition. In the patients with congenital missing teeth symptoms such as conical tooth, prolonged retention of primary tooth, tooth attrition. and deficient alveolar bone growth can be accompanied. In this paper the results of clinical observation of the congenital teeth missing brothers and their familial history are presented.

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Radiological features of familial Gorlin-Goltz syndrome

  • Hegde, Shruthi;Shetty, Shishir Ram
    • Imaging Science in Dentistry
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    • v.42 no.1
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    • pp.55-60
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    • 2012
  • Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation

  • Lee, Young-Ki;Lee, Dong Hun;Noh, Jung-Woo
    • Journal of Genetic Medicine
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    • v.10 no.1
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    • pp.7-12
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    • 2013
  • Familial Juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disorder, characterized by early onset of hyperuricemia, gout and progressive kidney disease. Hyperuricemia prior to renal impairment and decreased fractional excretion of uric acid are hallmarks of FJHN. Renal dysfunction gradually appears early in life and results in end-stage renal disease usually between the ages of 20 and 70 years. FJHN is mostly caused by mutations in the uromodulin gene located at 16p12. The course of FJHN is highly variable. Treatment includes management for hyperuricemia, gout and progressive kidney disease. Individuals with gout have been usually treated with allopurinol. But controversy exists as to whether uric acid lowering therapy prevents the progression of chronic kidney disease.

Two Cases of Henoch-$Sch{\ddot{o}}nlein$ Purpura in one Family at Similar Period (남매에서 비슷한 시기에 발생한 Henoch-$Sch{\ddot{o}}nlein$ 자반증 2례)

  • Kim, So-Young;Lim, In-Seok;Yoo, Byoung-Hoon
    • Childhood Kidney Diseases
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    • v.4 no.2
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    • pp.161-165
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    • 2000
  • Henoch-$Sch{\ddot{o}}nlein$ purpura(HSP) frequently follows upper respiratory infection, and one of the causes of this discase is inferred to $\beta$-hemolytic streptococcal infection, but the relationship is still unclear. familial tendency of this disease is unclear, too. Also genetic relationship of this disease has been in a controversy yet. We experienced two cases of HSP in brother and sister at similar period, and report this case with review of related literatures.

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