• Title/Summary/Keyword: agenesis

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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.

Diagnostic imaging features of calyceal diverticulum in a cat

  • Nam, Yunjeong;Lee, Youngwon;Choi, Hojung
    • Korean Journal of Veterinary Research
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    • v.61 no.2
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    • pp.17.1-17.4
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    • 2021
  • A seven-year-old, castrated male, Korean domestic shorthair cat was referred because of a kidney abnormality. Radiography revealed left renal agenesis and right kidney enlargement. Ultrasonography and computed tomography (CT) showed amorphous calcified materials in a cyst-like lesion of the right kidney. In the excretory phase of the CT images, the lesion was opacified with contrast materials, indicating communication with the collecting system. Based on these findings, the cat was diagnosed with a calyceal diverticulum. A calyceal diverticulum may cause various clinical symptoms related to the urinary system. The excretory phase of CT is useful for diagnosing a calyceal diverticulum.

Maxillary space closure using a digital manufactured Mesialslider in a single appointment workflow

  • Wilhelmy, Lynn;Willmann, Jan H.;Tarraf, Nour Eldin;Wilmes, Benedict;Drescher, Dieter
    • The korean journal of orthodontics
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    • v.52 no.3
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    • pp.236-245
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    • 2022
  • New digital technologies, many involving three-dimensional printing, bring benefits for clinical applications. This article reports on the clinical procedure and fabrication of a skeletally anchored mesialization appliance (Mesialslider) using computer-aided design/computer-aided manufacturing (CAD/CAM) for space closure of a congenitally missing lateral incisor in a 12-year-old female patient. The insertion of the mini-implants and appliance was performed in a single appointment. Bodily movement of the molars was achieved using the Mesialslider. Anchorage loss, such as deviation of the anterior midline or palatal tilting of the anterior teeth, was completely avoided. CAD/CAM facilitates safe and precise insertion of mini-implants. Further, mini-implants can improve patient comfort by reducing the number of office visits and eliminating the need for orthodontic bands and physical impressions.