• 제목/요약/키워드: agenesis

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A Clinical Study of the Funnel Chest: Report of 14 Cases (누두흉의 임상적 고찰-14례 보고-)

  • 이상호
    • Journal of Chest Surgery
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    • v.15 no.1
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    • pp.21-26
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    • 1982
  • Fourteen cases of funnel deformity, 11 were male and the others female, treated over a eleven-year period, are presented. The overall results with the methods described by the authors, Wada, Shannon, Adkins and Ravitch appear to be excellent. The symmetric depression was more common In children under the age of 12 years and asymmetric one Increased after the age of 12. Six cases of abnormal cardiac auscultatory findings revealed no consistent hemodynamic abnormalities. An 21-year-old female was associated with left lung agenesis and dextroversion of the heart, and a 6-year-old boy with congenital bronchogenic cyst who underwent right upper lobectomy. EKG changes associated with the anomaly were observed in all. Pulmonary function test showed the range from normal to moderate restriction which did not Improve in only one patient after operation, but the patient did not complain any restriction In activity. Some transient complications were developed which resulted in improvement.

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Correction of Funnel Chest: A Report of 4 Cases (누두흉의 수술교정)

  • 노준량
    • Journal of Chest Surgery
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    • v.7 no.2
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    • pp.153-162
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    • 1974
  • Four patients with funnel chest deformity corrected in the Department of Thoracic Surgery, Seoul National University Hospital are presented. The first case was a 21-year old female with cyanosis, clubbed fingers and systolic murmur on the left infrascapular region on physical examination associated with agenesis of the right lung. The deformity was of asymmetrical funnel chest, in which the left hemithorax was more sunken. She was corrected by the method of Funnel Costoplasty of Wada. The second case was a three years old boy whose anterior chest wall was symmetrically deformed, and he was corrected by the method of Ravitch using Adkins strut under the sternum. The third was a 22-year old man with symmetrical deformity, and was corrected by the method described by Shannon in 1973. The last patient was a 22-year old man and he had dyspnea on exertion, palpitation and apical systolic murmur with symmetrical funnel chest deformity. He was also corrected by Ravitch operation, All of them has excellent result.

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A Case of Thyroid Hemiagenesis Associated with Hypothyroidism (갑상선 기능 저하증과 동반된 갑상선 반쪽 무형성증 1예)

  • Lee, Dong Won;Ji, Yong Bae;Song, Chang Myeon;Tae, Kyung
    • Korean Journal of Head & Neck Oncology
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    • v.29 no.1
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    • pp.26-28
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    • 2013
  • Thyroid hemiagenesis is rare congenital anomaly that one lobe of thyroid fails to develop. It is often asymptomatic and discovered incidentally with other thyroid disease such as hypothyroidism, hyperthyroidism, multinodular goiter, benign adenoma and cancer. Most cases reported are left thyroid lobe agenesis and occurred in female. Compensatory hypertrophy occurs in most cases. Many cases are asymptomatic and detected incidentally, so awareness of its existence can help its detection and proper treatment. Here, we report a case of thyroid hemiagenesis accompanying hypothyroidism with a review of literature.

A Case of Townes-Brocks Syndrome (Townes-Brocks 증후군 1례)

  • So, Hong Seop;Choi, Hyun Ju;Yoon, Hye Sun;Hwang, Jin Soon;Sohn, Keun Chan
    • Clinical and Experimental Pediatrics
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    • v.46 no.4
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    • pp.382-384
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    • 2003
  • Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral renal agenesis.

Two cases of unilateral renal agenesis in a dog and a cat

  • Oh, Sun-Kyoung;Lee, Jung-Min;Kim, Hak-Sang;Kim, Gyeong-Min;Lee, Sung-Ok;Canang, Jin-Hwa;Jang, Joo-Hyun;Bang, Dong-Ha;Jeong, Seong-Mok;Yoon, Hwa-Young;Choi, Min-Cheol;Yoon, Jung-Hee
    • Proceedings of the Korean Society of Veterinary Clinics Conference
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    • 2006.05a
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    • pp.181-181
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    • 2006
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Late development of a mandibular second premolar

  • Bicakci, Ali Altug;Doruk, Cenk;Babacan, Hasan
    • The korean journal of orthodontics
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    • v.42 no.2
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    • pp.94-98
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    • 2012
  • In this report, we present the case of a girl with delayed odontogenesis of a lower second premolar for which she was followed up for 8.5 years. Congenital absence of permanent mandibular second premolars was observed at the initial radiographic examination at 8 years and 1 month. One year later, during the treatment period, an unexpected odontogenesis of a right second premolar was diagnosed on follow-up radiography. The original treatment plan was revised and a new plan was successfully implemented. This unusual case showed that the orthodontist's clinical philosophy must be flexible because unexpected situations can arise, especially when treating growing patients.

DENTAL MANAGEMENT OF A CHILD WITH WILLIAMS SYNDROME (윌리엄스 증후군 환아의 치과적 치험례)

  • Shun, Ye-Kyung
    • Journal of the korean academy of Pediatric Dentistry
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    • v.34 no.4
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    • pp.666-671
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    • 2007
  • Williams syndrome is a rare congenital disorder characterized by multiple anomalies involving the cardiovascular system, connective tissue, and the central nervous system resulting in mental retardation, distinctive facial features, and cardiovascular disease. It is also known to present typical oral manifestation including dental malformations, agenesis of teeth, and malocclusion. Impaction of a permanent tooth due to its deviant eruption path was observed in this case. The aim of this article is to report oral manifestation of a girl with Williams syndrome and the following dental treatment procedure.

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Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period

  • Truyols, Carmen
    • Childhood Kidney Diseases
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    • v.22 no.2
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    • pp.64-66
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    • 2018
  • Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four year-old girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present.

Diffusion Tensor MRI and Fiber Tractography: Evaluation of Developmental CNS Anomaly: Preliminary Results

  • Lee, Seung-Koo;Kim, Dong-Ik
    • Proceedings of the KSMRM Conference
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    • 2002.11a
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    • pp.86-86
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    • 2002
  • Purpose: To evaluate the white matter fiber configuration in various developmental CNS anomaly 대상 및 방법: Jubert Syndrome, congenital schizencephaly, callosal agenesis and hemiplegic cerebral palsy patients were evaluated by diffusion tensor MRI. All studies were performed using a 1.5T Philips Gyroscan Intern system. Diffusion weighted imaging was performed using single-shot echo planar imaging, with navigator echo phase correction and SENSE. Diffusion weighting was performed along six independent axes, using diffusion weighting of b=600s/$\textrm{mm}^2$. 128 matrix/zero filled to 256, 23cm FOV, 3mm slice thickness were used for imaging parameters. Data were processed on a Window-2000 PC equipped with IDL and PRIDE (Philips Medical System).

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Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

  • Bhesania, Dhvani;Arora, Ankit;Kapoor, Sonali
    • Imaging Science in Dentistry
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    • v.45 no.3
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    • pp.181-185
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    • 2015
  • Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.