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Long-Term Outcome of Patients Undergoing Total Proctocolectomy with Ileal Pouch-Anal Anastomosis in Childhood

Sim YJ, Oh C, Youn JK, Kim SH, Park KJ, Jeong SY, Jung SE, Park KW, Kim HY

PURPOSE: Total proctocolectomy with ileal pouch-anal anastomosis (T-IPAA) in childhood is a surgical procedure mainly applied to familial adenomatous polyposis (FAP) or ulcerative colitis (UC), but it can be applied...
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Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome

Valappil B, Krishna L, Sreedharan R, Shetty A

Prune belly syndrome is a rare congenital anomaly usually presented with triad characteristic feature of deficient abdominal muscles, cryptorchidism, and urinary tract anomalies. Here, we present a case with all...
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A Rare Case of Hyponatremia Caused by Reset Osmostat in a Neonate with Cleft Lip, Cleft Palate, and Imperforate Anus

Ahn JG, Lee JE, Chung WY, Koo SH, Shin J, Jeon GW

Hyponatremia is defined as a plasma sodium concentration of < 135 mEq/L. It is a common electrolyte imbalance in newborns. We report the case of a term neonate with cleft...
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Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects....
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Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus

Yoo DY, Kim HJ, Cho KH, Kwon EB, Yoo EG

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of...
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Inguinal Ectopic Scrotum, Anorectal Malformation with Sacral Agenesis and Limb Defects: An Unusual Presentation

Bawa M, Garge S, Sekhon V, Rao KL

A case of congenital ectopic scrotum in neonatal period is described. The ectopic scrotum was located in the right inguinal area and the left hemiscrotum was found in normal location...
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Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

Seo YJ, Lee KE, Ko JM, Kim GH, Yoo HW

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies,...
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An accessory limb with an imperforate anus

Park KB, Kim YM, Park JY, Chung ML, Jung YJ, Nam SH

Congenital accessory limbs are very rare anomalies with many causative factors. We describe the case of a 1-day-old female neonate-born to a healthy, 27-year-old mother-who presented with an accessory limb...
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Minimal Invasive Surgery: A National Survey of Its Members by the Korean Association of Pediatric Surgeons

Kim DY, Kim IS, Kim HY, Nam SH, Park KW, Park WH, Park YJ, Park JH, Park JY, Park JS, Park JY, Boo YJ, Seo JM, Seol JY, Oh JT, Lee NH, Lee MD, Jang JH, Jung KH, Jung SY, Jung SE, Jung SM, Jung EY, Jung JH, Cho MJ, Choi KJ, Choi SJ, Choi SO, Choi SH, Choi YM, Hong J

  • KMID: 2328767
  • J Korean Assoc Pediatr Surg.
  • 2014 Jun;20(1):1-6.
Minimal invasive surgery (MIS) has rapidly gained acceptance for the management of a wide variety of pediatric diseases. A questionnaire was sent to all members of the Korean Association of...
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A case report of prenatally diagnosed tetrasomy 18p

Jung PS, Won HS, Cho IJ, Hyun MK, Shim JY, Lee PR, Kim A

  • KMID: 2313947
  • Obstet Gynecol Sci.
  • 2013 May;56(3):190-193.
Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction...
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Anorectal Malformations Associated with Esophageal Atresia in Neonates

Byun SY, Lim RK, Park KH, Cho YH, Kim HY

PURPOSE: Anorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system....
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Congenital Bronchoesophageal Fistula with Imperforate Anus and Atrial Septal Defect in a 3-Year-Old Child

Min KB, Kim JD, Kim MJ, Kim KW, Sohn MH, Yoon CS, Kim DY, Kim KE

  • KMID: 2315309
  • Pediatr Allergy Respir Dis.
  • 2012 Dec;22(4):428-432.
Congenital bronchoesophageal fistula (BEF), congenital communication between esophagus and bronchus, is a rare malformation. Benign BEF shows only nonspecific symptoms that may delay a correct diagnosis and proper treatment. This...
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A case of successful vaginal delivery in a patient with a repair of an imperforate anus

Kim HY, Kim E, Kang M, Park CW, Park JS, Jun JK

As a general recommendation, women with a repair of an imperforate anus are candidates for vaginal deliveries if no contraindications exist. The adequacy (size and scarring) of the perineal body...
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Colon atresia, a rare comorbid condition in VACTERL association

Hwangbo JH, Heo EY, Choo YS, Bae JY, Kim MJ, Seong WJ

Vertebral, anal, cardiac, tracheoesophageal, renal and limb (VACTERL) association is defined by the presence of at least three of the following six congenital malformations: vertebral defects, anal atresia, cardiac defects,...
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Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray

Bae MH, Yoo HW, Lee JO, Hong M, Seo EJ

  • KMID: 2184488
  • J Genet Med.
  • 2011 Dec;8(2):119-124.
PURPOSE: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs...
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A Rare Case of Scimitar Syndrome Accompanied with an Imperforate Anus in a Newborn

Chun P, Lee HD, Kim YD

Scimitar syndrome (SS) is a rare congenital anomaly characterized by hypoplasia of the right lung and partially anomalous pulmonary venous drainage to the inferior vena cava. The term scimitar derives...
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Analysis of Neonatal Gastrointestinal Diseases in a Neonatal Intensive Care Unit for 3 Years Neonatal GI Diseases in a NICU for 3 Years

Kwon KA, Bae MH, Park KH, Byun SY, Cho YH, Kim HY, Sung SC

PURPOSE: To report our experience of gastrointestinal operations performed in neonates including low birth weight infants and to evaluate their clinical characteristics. METHODS: We retrospectively reviewed the medical records of patients...
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Clinical experience with persistent cloaca

Cho MJ, Kim TH, Kim DY, Kim SC, Kim IK

PURPOSE: Persistent cloaca is one of the most severe types of anorectal malformation. Appropriate initial drainage is difficult due to their various malformations and hydrocolpos or dilated urinary bladder. Corrective...
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Clinical Experience of Currarino Syndrome

Kim T, Cho MJ, Kim DY, Kim SC, Kim IK

  • KMID: 1447931
  • J Korean Assoc Pediatr Surg.
  • 2011 Jun;17(1):65-71.
Currarino syndrome is a hereditary syndrome characterized by the triad of a sacral bony defect, presacral mass and anorectal malformation. We retrospectively reviewed 13 Currarino syndrome patients who were treated...
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VATER Syndrome: A Case Report

Park JM, Kwon SJ, Kim JR, Kim YJ, Lee DU

  • KMID: 2176964
  • J Korean Acad Rehabil Med.
  • 2011 Feb;35(1):158-161.
VATER syndrome is defined as the combinations of three or more of the followings; Vertebral defect, Anal atresia, Esophageal atresia and/or Tracheo-Esophageal fistula, Renal dysplasia, and Radial-ray limb anomalies. A...
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