• Title/Summary/Keyword: Agenesis

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

  • Kang, Mi Na;Lim, In Suk;Kim, Byeong Eui;Chey, Myoung Jae;Kim, Sang Woo
    • Clinical and Experimental Pediatrics
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    • v.45 no.2
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    • pp.273-277
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    • 2002
  • Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case of 4q interstitial deletion in a 2 day-old female neonate who showed short extremities, partial agenesis of corpus callosum and congenital heart defects. We report the case with a brief review of the literature.

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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    • v.41 no.1
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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.

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

  • Kim Ji-Hee;Shin Hye-Kyung;Hong Young-Sook;Lee Joo-Won;Kim Soon-Kyum;Yoo Kee-Hwan
    • Childhood Kidney Diseases
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    • v.6 no.2
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    • pp.266-271
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    • 2002
  • There are several diseases characterized by neurologic abnormalities and renal disease. Joubert syndrome is one of them. Joubert syndrome Is a relatively rare autosomal recessive syndrome. The most significant and constant neurologic finding is hypoplasia of the cerebellar vermis. Joubert syndrome is associated with hypotonia, retinal dystrophy, abnormal eye movement, delayed development, abnormal respiratory pattern (neonatal episodic tachypnea or apnea) and nephronophthisis. We report a boy with Joubert syndrome associated with nephrocalcinosis and agenesis of the cerebellar vermis. This patient had also abnormal eye movement, hypotonia, abnormal respiratory pattern, delayed development and chronic renal failure.

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

  • Tark, Kwan Chul;Choi, Bong Kyoon;Choi, Jong Woo
    • Archives of Plastic Surgery
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    • v.32 no.1
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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
    • The korean journal of orthodontics
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    • v.52 no.5
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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.

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

  • Seo, Ki-Hyun;Moon, Seung-Hyug;Kim, Yong-Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.52 no.3
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    • pp.288-293
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    • 2002
  • A 32-year-old woman presented with cough and hemoptysis. The radiologic findings showed increased interstitial markings in the right lung, a slightly decreased lung volume in the RLL and a hypoplastic right pulmonary artery with collaterals in the mediastinum and subpleural area. The pulmonary angiography showed an abrupt occlusion of the right lower pulmonary artery. The echocardiographic findings indicated pulmonary hypertension. A doppler leg ultrasonograph disclosed that the left popliteal vein was occluded with collateral veins, not filling the defect in the venous lumen. The D-dimer increased 1.0 ug/ml. This condition was initially misdiagnosed as a congenital pulmonary artery agenesis. Finally, a chronic pulmonary thromboembolism with a deep vein thrombosis was confirmed.

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

  • Kang, Byung-Sam;Dong, Kyung-Rae
    • Korean Journal of Digital Imaging in Medicine
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    • v.13 no.2
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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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    • v.23 no.2
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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
    • Journal of the korean academy of Pediatric Dentistry
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    • v.50 no.4
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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.