• 제목/요약/키워드: Congenital Abnormality

검색결과 98건 처리시간 0.026초

소아 특발성 관절염과 관련된 요통으로 오인된 베르톨로티 증후군 (Bertolotti's Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis in an Adolescent Girl with Low Back Pain)

  • 한승희;김중곤;김종규
    • Clinical Pain
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    • 제20권1호
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    • pp.35-38
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    • 2021
  • Bertolotti's syndrome is a congenital abnormality in which the expanded lower lumbar transverse process articulates with the ilium or sacrum. It is an important cause of low back pain in children and adolescents that is frequently misdiagnosed. We describe the case of a 17-year-old girl with low back pain who had a 4-year history of juvenile idiopathic arthritis. She subsequently underwent plain radiography and magnetic resonance imaging and was eventually diagnosed with Bertolotti's syndrome. She was managed conservatively with 6 weeks of physical therapy and an exercise program, and her pain subsided. This case demonstrates the importance of considering anatomical and structural variants when evaluating low back pain in adolescents.

Antenatally detected urinary tract dilatation: a pediatric nephrologist's point of view

  • Hyung Eun Yim
    • Childhood Kidney Diseases
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    • 제28권1호
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    • pp.1-7
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    • 2024
  • Antenatally diagnosed urinary tract dilatation (UTD), previously referred to as antenatal hydronephrosis, is the most commonly detected abnormality by prenatal ultrasonography. Several grading systems have been developed for the classification of antenatal UTD using prenatal and postnatal ultrasonography. UTD comprises a wide variety of congenital abnormalities of the kidney and urinary tract ranging from transient UTD to more significant abnormalities such as vesicoureteral reflux, ureteropelvic junction obstruction, ureterocele, ureterovesical junction obstruction, posterior urethral valves, and non-refluxing megaureter. Optimizing the evaluation of antenatally detected UTD is essential to recognize children with important disorders while avoiding excessive investigations. Conservative approach with close follow-up is increasingly accepted as an appropriate treatment option for patients with asymptomatic vesicoureteral reflux and ureteropelvic junction obstruction in recent years. However, predicting permanent kidney damage in an unselected group of children with antenatal UTD is still challenging. The management and follow-up of children with UTD should be individualized based on recommendations from a pediatric nephrologist, a pediatric urologist, or both. Future research directed at predicting long-term outcomes of children diagnosed with UTD from mild findings to severe disease is needed to refine management for those at higher risk of kidney disease progression.

우측 윗눈꺼풀 외측 피부에서 발견된 선천 눈물샘소관 샛길 1예 (A Case of Congenital Lacrimal Ductule Fistula on Lateral Skin to the Right Upper Eyelid)

  • 한가희;정인권;이도형;김진형;서지원
    • 대한안과학회지
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    • 제59권12호
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    • pp.1181-1184
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    • 2018
  • 목적: 선천 눈물샘소관 샛길은 드물게 보고되었으며 아직까지 국내에서는 보고된 바 없다. 본 증례에서는 선천 눈물샘소관 샛길을 경험하였기에 이를 보고하고자 한다. 증례요약: 우측 윗눈꺼풀 외측 피부에 위치한 구멍을 통해 투명한 액체 고임을 주소로 생후 3개월 여아가 내원하였다. 재태연령 35주 3일에 태어났으며, 그 외 특이 과거력은 없었고 다른 안과적인 이상은 발견되지 않았다. 내원 당시 우측 상안검 외측에서 무색의 투명한 액체가 고인 직경 약 2 mm 크기의 개구부가 보였으며, 개구부 주변으로 감염을 의심할 만한 소견은 없었다. 눈물고임 증상을 동반한 눈물소관 샛길 소견으로 전신마취하 눈물소관 샛길의 완전절제 및 병리생검을 시행하였으며, 조직학적 소견상 눈물소관 샛길을 진단하였다. 수술 후 우측 윗눈꺼풀 외측 눈물흘림은 호전되었고, 재발 소견은 관찰되지 않았다. 결론: 현재까지 국내에서 보고된 적 없는 선천 눈물샘소관 샛길 및 이의 치료 과정을 경험하였기에 이를 보고하고자 한다.

쇄골두개 이형성증 환아의 증례보고 (CLEIDOCRANIAL DYSPLASIA : A CASE REPORT)

  • 김태완;김영진
    • 대한장애인치과학회지
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    • 제3권2호
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    • pp.91-96
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    • 2007
  • 치과의사는 쇄골두개 이형성증의 특징에 대해 잘 알고 있어야 한다. 쇄골두개 이형성증 환자는 신체 및 정신적으로 특별한 이상을 보이지 않기 때문에, 영구치교환시기를 한참 지나 다수치아에서의 유치만기잔존 및 영구치의 미 맹출을 주소로 치과에 내원하게 되는 경우가 많은 것이 사실이다. 이런 의심이 들 때는 정확한 진단을 위해 반드시 다양한 방사선사진을 촬영해 보아야 하겠다. 또한 긴 치료기간으로 인해 환자의 협조와 여러 분야에 있어서 전문가들의 협력이 반드시 필요할 것이다.

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여섯 손가락증의 수술적 교정: 새로운 수술 방법의 고안과 적용 (Surgical Correction of Hexadactyly: Innovation of new technique and its application)

  • 탁관철;이명철
    • Archives of Plastic Surgery
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    • 제36권5호
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    • pp.642-648
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    • 2009
  • Purpose: Hexadactyly without thumb is a rare congenital anomaly of the hand where six triphalangeal digits are symmetrically distributed without thumb. Contrary to mirror hands, triphalangeal six digits are symmetrically distributed on each side at the midline with well - differentiated carpal bones, extensor tendons, one ulnar and one radius. The authors developed a new surgical technique based on a three - dimensional concept to correct the hexadactyly and applied to 2 cases of hexadactyly with good functional and aesthetic results. Here we document the surgical technique and its result. Methods: A 16 month old male patient visited our clinic with chief complaints of bilateral hexadactyly deformity. On physical examination most radial first and second digits showed no opposition and adduction motion on both side hands. Radiography showed 6 triphalangeal digits with normal development of carpal, radial and ulnar bone. Right side abnormality was corrected by removal of most radial side extra - digit, rotation and migration of 2nd ray to thumb position and creation of 1st web by transposing a mid - palm based rectangular palmar flap as in Snow & Littler procedure which has been being applied for correction of 1st web syndactyly in cleft hand deformity. Seven months later, left side abnormality was also corrected with the same procedure. Results: Postoperative appearances of the both hands were satisfactory. Flexion, extension, opposition and grasping were possible with the pollicized 2nd ray. Pinching power was 3.0 kg 15 months after surgery and 2.5 kg 22 months after in right hand respectively. Conclusion: In correction of hexadactyly deformity, satisfactory aesthetic and relevant functional results can be expected with authors' newly developed technique: removal of most radial digit, rotation and migration of 2nd digit to thumb position as well as creation of the 1st web space by transposition of mid - palm based rectangular flap.

Association of maxillary dental developmental abnormality with precocious puberty: a case-control study

  • Kim, Yesel;Lee, Nam-Ki;Kim, Jae Hyun;Ku, Jeong-Kui;Lee, Bu-Kyu;Jung, Hoi-In;Choi, Sun-Kyu
    • Maxillofacial Plastic and Reconstructive Surgery
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    • 제42권
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    • pp.30.1-30.7
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    • 2020
  • Background: Dental studies of precocious puberty have focused on examination of jaw and dentition growth. The aim of the study was to analyze the relationship between precocious puberty and maxillary dental developmental abnormalities (DDAs). Methods: This retrospective study was conducted on the Korean patients in whom dental panoramic and hand-wrist radiographs had been taken before they were 15 years of age. The maxillary DDAs were assessed as mesiodens, congenital missing teeth, peg-shape lateral incisors, or impacted teeth. The chronological ages of the control group members were within the normal range of the hand-wrist bone age. Others with a peak luteinizing hormone of ≥ 5 and < 5 IU/L were allocated to central precocious puberty (CPP) and peripheral precocious puberty (PPP), respectively. Results: Of the enrolled 270 patients, 195, 52, and 23 were allocated to the control, CPP, and PPP groups, respectively. The maxillary DDAs were significantly more prevalent in the CPP group than in the other groups. Among those with maxillary DDA, the mesiodens predominated. Age- and sex-adjusted multivariate analysis revealed maxillary DDA (odds ratio, 3.36; 95% CI, 1.60-7.05) and especially mesiodens (odds ratio, 5.52; CI, 2.29-13.28) to be significantly associated with CPP. Conclusions: Maxillary DDAs were significantly more prevalent in the CPP group than in the PPP or control groups. Among the many types of maxillary DDAs, mesiodens was significantly associated with CPP and may be considered a predictor of the development of CPP.

소아의 제장간막관 기형의 임상적 고찰 (Clinical Analysis of Vitelline Duct Anomalies in Children)

  • 김성집;정재희;송영택
    • Advances in pediatric surgery
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    • 제13권1호
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    • pp.37-44
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    • 2007
  • A vitelline duct (VD) anomaly is a relatively common congenital abnormality of the umbilical area. The anomalies include patent vitelline duct (PVD), cyst, fistula or sinus. The incidence is approximately 2% of the populations, but development of symptoms is rare. Recently, we experienced two cases; PVD accompanied by a small omphalocele and intestinal volvulus due to mesenteric band between Meckel's diverticulum and the mesentery. Thereafter,we evaluated the data of vitelline duct anomalies for 27 years. From 1980 to 2006, 18 cases of VD anomalies were reviewed based on the hospital records retrospectively. There were 15 boys and 3 girls and age ranged from 2 days to 15 years. Among the 18 cases, 15 cases were symptomatic and consisted of Meckel's diverticulum (10 cases), PVD (4 cases) and umbilical polyp (1 case). Three asymptomatic cases of Meckel's diverticulum were found incidentally were and were observed without resection. Ten cases of Meckel's diverticulum were presented with intestinal bleedings (4 cases), intestinal obstructions (5 cases) and perforation (1 case). Wedge resections and segmental resections of ileum were performed in 8 patients and 2 patients, respectively. Postoperative complications were adhesive ileus (1 case) and wound seroma (1 case). Small omphaloceles were accompanied in two of 4 PVD patients. There was 1 small omphalocele case which was accompanied by a prolapse of ileum. In summary, VD anomalies were more common in male and more than half of them were found in patients less than 1 year of age. PVD was diagnosed most frequently in neonates. Meckel's diverticulum presented with intestinal obstruction more frequently than bleeding.

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변형 Biemer 방법에 의한 요골부위 전박 유리피판을 이용한 음경재건 (Penile Reconstruction Using a Radial Forearm Free Flap with Modified Biemer's Method)

  • 김성덕;하범준;문구현;현원석;방사익;오갑성
    • Archives of Reconstructive Microsurgery
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    • 제11권2호
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    • pp.146-152
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    • 2002
  • As the defects of the penis caused by trauma, surgical amputation, or congenital abnormality give the patients both psychological trauma and functional impairment, reconstruction of the penis is mandatory. Radial forearm free flap is reliable one-stage procedure, which can reconstruct both the phallus and the urethra. Chang and Whang's adaptation of the "tube-in-a-tube" concept and its incorporation into a free flap design represented a major advance in microsurgical phallic construction. Biemer described a modification of the radial forearm flap design in which the neourethra was centered over the radial artery, but the phallic shaft was separated into two paraurethral swatches. The authors have performed one-stage penile reconstruction in two patients since 1998, using a radial forearm free flap. Our present design incorporates the original Biemer triple skin island and includes a fourth distal island for neoglans. One case was the amputation of the penis from felonious assault and the other case was the iatrogenic penile amputation from repetitive urologic surgery for congenital hypospadia. All patients showed aesthetically acceptable results and good tactile sensory recovery. Severe complications such as necrosis, fistula, or urethral stricture were not occurred. Biemer's method modified by the authors is reliable one-stage penile reconstruction providing good aesthetic and functional results.

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갑자기 간성뇌증이 발생한 선천성 간내 문맥정맥단락 환자의 코일 색전술 치료: 증례 보고 (Treating Sudden Onset Hepatic Encephalopathy with Coil Embolization in a Patient with a Congenital Intrahepatic Portosystemic Venous Shunt: A Case Report)

  • 최연수;김진혁;전웅배;장주연;김태언;류화성
    • 대한영상의학회지
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    • 제83권6호
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    • pp.1426-1431
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    • 2022
  • 간내 문맥정맥단락은 간문맥-대정맥 또는 간문맥-간정맥이 연결되어 있는 드문 혈관 질환이다. 간내 문맥정맥단락은 주로 무증상을 보이며, 다른 질환으로 영상 검사를 하였을 때 우연히 발견될 수 있다. 하지만 단락양이 많거나 증상이 있는 경우 단락 색전술을 고려하여야 한다. 저자들은 선천성 간내 문맥정맥단락 환자에서 갑자기 간성뇌증이 발생하여 이를 경간 코일 색전술로 치료한 증례를 보고하고자 한다.