• 제목/요약/키워드: agenesis

검색결과 123건 처리시간 0.023초

뇌량의 부분 발육부전을 동반한 4q Deletion 1례 (A Case of 4q Deletion with Partial Agenesis of Corpus Callosum)

  • 강미나;임인숙;김병의;최명재;김상우
    • Clinical and Experimental Pediatrics
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    • 제45권2호
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    • pp.273-277
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    • 2002
  • 저자들은 짧은 사지를 가지고 태어난 생후 2일된 여자 신생아에서 뇌량의 부분 발육부전과 특징적인 임상소견을 보이면서 염색체 검사상 4번 염색체 장완 간질부결손으로 확진된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Unilateral segmental odontomaxillary hypoplasia: an unusual case report

  • Pandey, Sushma;Pai, Keerthilatha M.;Nayak, Ajay G.;Vineetha, Ravindranath
    • Imaging Science in Dentistry
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    • 제41권1호
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    • pp.39-42
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    • 2011
  • Facial asymmetry is not an uncommon occurrence in day to day dental practice. It can be caused by various etiologic factors ranging from facial trauma to serious hereditary conditions. Here, we report a rare case of non-syndromic facial asymmetry in a young female, who was born with this condition but was not aware of the progression of asymmetry. No relevant family history was recognized. She was also deficient in both deciduous and permanent teeth in the corresponding region of maxilla. Hence, the cause of this asymmetry was believed to be a segmental odontomaxillary hypoplasia of left maxilla accompanied by agenesis of left maxillary premolars and molars and disuse atrophy of corresponding facial musculature. This report briefly discussed the comparative features of segmental odontomaxillary hypoplasia, hemimaxillofacial dysplasia, and segmental odontomaxillary dysplasia and justified the differences between segmental odontomaxillary hypoplasia and the other two conditions.

신석회화와 소뇌 충부의 무형성을 동반한 Joubert 증후군 1례 (A Case of Joubert Syndrome Associated with Nephrocalcinosis and Agenesis of Cerebellar Vermis)

  • 김지희;신혜경;홍영숙;이주원;김순겸;유기환
    • Childhood Kidney Diseases
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    • 제6권2호
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    • pp.266-271
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    • 2002
  • Joubert 증후군은 소뇌 충부 무형성을 특징으로 하며 근 긴장 저하, 불규칙적인 호흡, 발달 지연, 안진, 망막 이형성, 낭종성 신질환, 간 섬유증, 다지증 등이 동반되는 증후군이다. 이 질환에서는 소뇌 충부의 병변과 신장의 병변이 무작위적으로 함께 나타나기도 하는데, 저자들은 소뇌 충부 무형성, 근 긴장저하, 안진, 무호흡 등이 있어 Joubert 증후군으로 진단받은 환아가 신장 수질 석회화 병변과 만성 신부전으로 진행한 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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개량된 McIndoe 술식을 이용한 무질증 환자의 질 재건 (A Modified McIndoe Operation for Treatment of Vaginal Agenesis)

  • 탁관철;최봉균;최종우
    • Archives of Plastic Surgery
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    • 제32권1호
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    • pp.117-123
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    • 2005
  • The reconstructive modalities for vaginal reconstruction include simple dilatation, skin graft, use of intestinal segments and various methods using flaps. However, skin grafting procedure is the most commonly used technique and the McIndoe procedure is a representative technique among skin grafting procedures. McIndoe procedure is easier, faster and has a lower morbidity compared to other techniques. However the conventional McIndoe procedure has several problems such as incomplete vestibule formation, excessive bleeding during dissection, possibility of recto-vaginal or urethro-vaginal fistula formation, late vaginal contracture and discomfort in wearing hard plastic mold for a long time after operation. To solve these problems, the authors modified the conventional McIndoe procedure in several perspectives. The undeveloped vestibule was incised with X-shaped mucosal incision between the urethral opening and posterior margin of the vestibule and deepened by blunt finger dissection to provide a sufficient diameter & length of the neovagina and to minimize bleeding. A sizable medium thickness split skin graft was harvested and wrapped over a roll gauze-filled condom mold. Applying multiple stab incision on the skin grafted condom mold, it was inserted into the prepared neovaginal canal. Distal margin of the skin graft was secured with tips of the mucosal flaps created by X-shaped vestibular incision to prevent accidental extrusion of the skin grafted mold. During last 15 years, we applied this modification to 20 vaginal agenesis patients and investigated results of the 12 patients who could be followed up serially including hematoma formation and skin graft survival rate, size, depth, presence of late contracture, appearance, comfortness, and hygiene of the neovagina. And they were compared with 8 patients of 20 patients who underwent conventional McIndoe procedures. The modified McIndoe procedure revealed lower complication rate, higher patient satisfaction and better functional results.

Common dental anomalies in Korean orthodontic patients: An update

  • Ku, Ja Hyeong;Han, Byoul;Kim, Jaehyun;Oh, Jiyoung;Kook, Yoon-Ah;Kim, Yoonji
    • 대한치과교정학회지
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    • 제52권5호
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    • pp.324-333
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    • 2022
  • Objective: The aim of this study was 1) to investigate the prevalence and pattern of dental anomalies (DAs), 2) to compare DAs according to the type of malocclusion, and 3) to investigate the correlation between tooth impaction and other DAs in the Korean orthodontic population. Methods: A total of 3,240 orthodontic patients were classified as Class I, Class II, or Class III malocclusion groups. The presence and location of common DAs, including impaction, microdontia, agenesis, supernumerary tooth, transposition, and fusion, were identified by examining diagnostic records. Furthermore, samples were classified as Group 1 without impaction or Group 2 with impaction. The prevalence of other DAs concurrent with impaction was investigated and compared to Group 1. Results: Impaction was the most prevalent DA, followed by microdontia, agenesis, and supernumerary. Class I and Class III groups showed the same order of prevalence, but agenesis was more frequent than microdontia in the Class II group. The prevalence of the four DAs was lowest in the Class III group. Overall, 8.6% of patients were classified into Group 2. The incidence of DAs other than impaction and the prevalence of multiple concurrent DAs were significantly higher in Group 2. Impaction showed a significant relationship with supernumerary tooth, transposition, and fusion. Conclusions: The prevalence and pattern of DAs varied depending on the type of malocclusion. As there was a higher risk of other DAs in patients with impacted teeth, early detection of the impacted tooth and a detailed diagnosis of other possible DAs may be essential.

객혈을 주소로 폐용적 감소를 동반한 32세 여자환자 (A 32 Years-old Female Accompanied by the Loss of Lung Volume, Complained of Hemoptysis)

  • 서기현;문승혁;김용훈
    • Tuberculosis and Respiratory Diseases
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    • 제52권3호
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    • pp.288-293
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    • 2002
  • 저자들은 객혈을 주소로 내원하여 선천성 폐동맥 부발육증으로 오인한 32세 여자환자를 폐색전증으로 진단하였고, 항응고제 투여를 통해 호전된 예를 문헌고찰과 함께 보고하는 바이다.

중재적 시술 시 팬텀을 이용한 환자의 피폭선량 분석 (TA Study on Patient Exposure Dose Used the Phantom for Interventional Procedure)

  • 강병삼;동경래
    • 대한디지털의료영상학회논문지
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    • 제13권2호
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    • pp.71-76
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    • 2011
  • Because interventional procedure operates looking at premier as real time when perate intervention enemy, by patient is revealed during suitableness time in radiation, side effect such as radiation injury of skin is apt to happen. It established by purpose of study that measure exposure dose that patient receives about these problem, and find solution for radiation injury and repletion method. In this study, we used Rando phantom of identical structure with the human body which becomes accomplished with 4 branch ingredient of the attempt and system equivalent material them and absorbed dose were measured by TLD. According to the laboratory, it shows that operations such as TFCA procedure or uterine myoma embolization are more dangerous than TACE procedure. If both operations are inspected during a short time, it is not affected in being bombed. However, it can lead to palliative agenesis or depilate, definitive agenesis only if operations are repeated more than three times. Dose distibution based on experiment, to reduce radiation exposure to patients result from reduction of scatter ray as we control field size of radiation and protection of side organs except for tumor. also we knew that we can protect patients form radiation exposure, if we increas SOD and decrease SID.

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Herlyn-Werner-Wunderlich Syndrome with Central Precocious Puberty: A Case Report

  • Han, Jeeho;Lee, Jae Man;Kim, Geon Hee;Kim, Su Jin
    • Childhood Kidney Diseases
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    • 제23권2호
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    • pp.124-127
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    • 2019
  • Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly of the genitourinary tract comprising uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome usually present symptoms such as dysmenorrhea, abdominal pain, pelvic mass, and purulent vaginal discharge. If not treated at an appropriate time, complications such as infertility, endometriosis, pyosalpinx, and subsequent pelvic adhesions may occur. Here, we report a case of HWW syndrome in a 7-year-old-girl who was also diagnosed as having central precocious puberty. She was brought to the pediatric department with chief complaints of lump in her breast and vaginal discharge. When she was around 2 months old, she was confirmed to have a single kidney on ultrasonography. We checked her past medical history and diagnosed her as having HWW syndrome based on the results of imaging studies, including abdominal ultrasonography and pelvic magnetic resonance imaging. She underwent treatment with gonadotropin-releasing hormone analogue for 2 years. During 24 months of follow-up, she showed no serious problems or complications. If renal anomalies are identified immediately after birth or in infancy, further screening tests should be conducted prior to menstruation for determining congenital abnormalities of the reproductive tract and vice versa.

Assessment of Risk Factors for Dental Developmental Disorders in Pediatric Cancer Survivors

  • Jihyun Lee;Hyung-Jun Choi;Jaeho Lee;Je Seon Song;Chung-Min Kang
    • 대한소아치과학회지
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    • 제50권4호
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    • pp.421-433
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    • 2023
  • This study was to examine the developmental dental abnormalities in childhood cancer survivors. Risk factors were assessed for 125 children with radiographic data through a retrospective analysis of medical records and panoramic images. 68.0% of childhood cancer survivors exhibited at least one dental abnormality. The types of abnormalities varied depending on the age at cancer diagnosis and treatment intensity, ranging from microdontia (43.2%), to abnormal root development (39.2%) and tooth agenesis (33.6%). Logistic regression analysis demonstrated that a young age at diagnosis (under 3 years), the use of heavy metal agents, a history of hematopoietic stem cell transplantation (HSCT), and combination treatment of chemotherapy, radiation therapy, and HSCT were associated with a significantly higher risk for overall dental abnormalities. The increased risk ratios were 6.00, 3.06, 3.22, and 7.87, respectively (p < 0.05). The results of this study will predict dental abnormality in permanent dentition according to the diagnosis age and treatment method of childhood cancer.