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A Case of Congenital Nasal Pyriform Aperture Stenosis

Lee J, Choi SY, Choi MS

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of upper airway obstruction in the newborn. This affliction is due to bony overgrowth of the nasal process of the...
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A case of de novo 18p deletion syndrome with panhypopituitarism

Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round...
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Absence of the lateral and third ventricles associated with holoprosencephaly

Ciftcioglu E, Ozyurek H, Nural MS, Kopuz C, Incesu L, Ogur G

We describe a 6-month-old boy suffering from motor and mental retardation. All radiological features were suggestive of holoprosencephaly with no identifiable lateral or third ventricles and fusion of the thalami.
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Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

Koplay M, Onbas O, Alper F, Borekci B

Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and...
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Facial dysmorphisms associated with holoprosencephaly

Kim MJ, Park IY, Kim YH, Choi MN, Kim MS, Lee Y, Shin JC, Kim SJ

  • KMID: 1992891
  • Korean J Obstet Gynecol.
  • 2008 Apr;51(4):399-406.
OBJECTIVE: The purpose of this study is to determine and classify holoprosencephlay with the associated facial abnormalities. METHODS: This was a retrospective study in which were reviewed the sonographic findings in...
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A Case Report of Holoprosencephaly

Song SH, Kang NH

  • KMID: 2040904
  • J Korean Soc Plast Reconstr Surg.
  • 2007 Jul;34(4):527-529.
PURPOSE: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of...
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Prenatal 3D-ultrasound diagnosis of Otocephaly and Holoprosencephaly-Cyclopia

Kim MJ, Kim HJ, Ha MJ, Moon JM, Ji EY, Park IY, Hur SY, Lee GS, Shin JC, Kim SJ

  • KMID: 2272712
  • Korean J Obstet Gynecol.
  • 2005 Oct;48(10):2422-2427.
Otocephaly is a rare malformations comprising hypoplasia or absence of the mandible (agnathia), ventromedial displacement and often fusion of external ears (synotia or otocephaly), and hypoplasia of the oral cavity...
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ACase of the Patau Syndrome Diagnosed in Second Trimester

O YR, Kong DS, Lee GH, Back JW, Kang JH, Kim YS

  • KMID: 2280559
  • Korean J Perinatol.
  • 2005 Jun;16(2):176-180.
Patau syndrome is trisomy 13, one of the most common autosomal aberration associated with multiple congenital anomalies. Because trisomy 13 is generally associated with severe congenital anomalies and postpartum...
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A Case of Isolated Interhemisphere Fusion of Frontal Lobe with Intact Septum Pellucidum : A Variant of Holoprosencephaly

Kim SW, Kim MS, Park JR, Yoo HJ, Kim CH, Lee HH, Park RH

  • KMID: 2177017
  • J Korean Child Neurol Soc.
  • 2005 May;13(1):79-83.
Holoprosencephaly is a rare CNS developmental defect with midline cleavage of embryonal forebrain during the fourth week of fetal development characterized with s single ventricle. Holoprosencephaly is divided into three...
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A Case of Alobar Holoprosencephaly with Cyclopia and Proboscis in Prematurity

Park SW, Kim YH, Sung TJ, Kwon YS, Jun YH, Kim L

  • KMID: 2099084
  • J Korean Soc Neonatol.
  • 2004 Nov;11(2):247-251.
Holoprosencephaly is a developmental malformation complex of forebrain and midface which arises from incomplete cleavage of the embryonic forebrain. It is subdivided into alobar, semilobar and lobar types based on...
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A Case of Patau Syndrome Diagnosed in Antenatal Care

Bae SK, Jung JS, Kee HS, Kim YS, Kwon H, Park JH, Kim TH

  • KMID: 2272144
  • Korean J Obstet Gynecol.
  • 2003 Aug;46(8):1634-1638.
Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It...
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A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)

Lee SY, Cho SM

  • KMID: 1606978
  • J Korean Pediatr Soc.
  • 2003 Aug;46(8):831-835.
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome...
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A Case of Holoprosencephaly

Ko HE, Lee IH, Kim JH, Shim ES, Koh JW, Kim YB

  • KMID: 2076751
  • Korean J Obstet Gynecol.
  • 2002 Nov;45(11):2035-2038.
Holoprosencephaly is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. It was associated with chromosomal anomalies, genetic syndrome, teratogen, or...
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Partial Trisomy 13 (Patau Syndrome): An Autopsy Report

Choi KC, Shin HS, Park YE, Seo JL, Lee SW, Ro ES, Kim YP

  • KMID: 2275566
  • Korean J Pathol.
  • 2002 Oct;36(5):338-340.
Trisomy 13 (Patau syndrome) is rare and usually fatal if contracted within the first six months of life. We report a case of a male fetus with the typical features...
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A Case of Holoprosencephaly

Kim MH, Yang SC, Cho EN, Park SY, An HS, Choi WY

  • KMID: 2076695
  • Korean J Obstet Gynecol.
  • 2002 Sep;45(9):1636-1640.
Holoprosencephaly is a complex abnormality of the forebrain that is postulated to derive from a failure in the diverticulation of the embryonic prosencephalon. Early antenatal diagnosis of holoprosencephaly is important...
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Septooptic Dysplasia: A Case Report

Kim JH, Choi DS, Lee CW, Kim S, Kim SH, Lee SW, Ha JH, Sakong JK, Lee HK

  • KMID: 2334930
  • J Korean Radiol Soc.
  • 2001 Sep;45(3):251-253.
Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of...
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A case of the Patau syndrome diagnosed in second trimester

Kang GH, Yoon SJ

  • KMID: 2262195
  • Korean J Obstet Gynecol.
  • 2001 Jan;44(1):184-188.
Patau syndrome is trisomy 13, one of the abnormalities of chromosomal structure and, is relatively common with Down syndrome and Edward syndrome. Also it is associated with intrauterine growth retardation,...
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A Case of Recurrent Holoprosencephaly

Kim JS, Choi JR, Jung CW, Seo K, Kim JY, Sung YJ

  • KMID: 2262055
  • Korean J Obstet Gynecol.
  • 2000 Jul;43(7):1276-1281.
Holoprosencephaly(HPE), a common developmental defect affecting the forebrain and cranioface, is etiologically heterogenous. Teratogen, chromosomal anomalies, genetic syndrome, or genetic disorder of non-syndromic HPE are usually accepted as etiology. But the severity...
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Three Cases of Holoprosencephaly

Kim JH, Lee G

  • KMID: 2072008
  • Korean J Perinatol.
  • 1999 Dec;10(4):518-523.
Holoprosencephaly is a rare complex cerebral anomaly produced by a failure of cleavage of the prosencephalon. The association of brain anomalies and facial dysmorphism is a typical finding. There are...
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Two Cases of Holoprosencephaly

Chae IH, Kim MC, Shin SW, Lee SL, Kim IS, Kim IB, Jo BC, Choi IC, Park JG

  • KMID: 2269774
  • Korean J Obstet Gynecol.
  • 1999 Aug;42(8):1869-1876.
Holoprosencephaly is a rare malformation complex or development defect including different degrees of incomplete cleavages of the embryonic prosencephalon and varying degrees of the midface defects, resulting from the defect...
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