- Fetus Prenatally Diagnosed with Lobar Holoprosencephaly Postnatally Diagnosed with Simple Hydrocephalus with Good Prognosis: A Case Report
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Moon H, Kim EH
- KMID: 2533894
- Perinatology.
- 2022 Sep;33(3):170-173.
- doi: 10.14734/PN.2022.33.3.170
Hydrocephalus is ventriculomegaly caused by an increased pressure of the cerebrospinal fluid within the ventricles of the brain. As uncomplicated hydrocephalus rarely has fatal outcomes, it stands in contrast to... -
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- A Case of Congenital Nasal Pyriform Aperture Stenosis
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Lee J, Choi SY, Choi MS
- KMID: 2465544
- J Rhinol.
- 2019 Nov;26(2):117-121.
- doi: 10.18787/jr.2019.26.2.117
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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- Absence of the lateral and third ventricles associated with holoprosencephaly
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Ciftcioglu E, Ozyurek H, Nural MS, Kopuz C, Incesu L, Ogur G
- KMID: 2424827
- Anat Cell Biol.
- 2015 Sep;48(3):222-224.
- doi: 10.5115/acb.2015.48.3.222
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
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Koplay M, Onbas O, Alper F, Borekci B
- KMID: 1779459
- Korean J Radiol.
- 2009 Jun;10(3):307-309.
- doi: 10.3348/kjr.2009.10.3.307
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
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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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- Prenatal 3D-ultrasound diagnosis of Otocephaly and Holoprosencephaly-Cyclopia
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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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- A Case of Isolated Interhemisphere Fusion of Frontal Lobe with Intact Septum Pellucidum : A Variant of Holoprosencephaly
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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
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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 21-Monosomy with Holoprosencephaly(Semilobar Type)
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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
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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
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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
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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
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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 Recurrent Holoprosencephaly
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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
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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
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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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- A Case of Cyclopia Associated with Trisomy 13
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Seok JH, Chung SW, Son SK, Lee RR, Lee DH, Kang IK, Kim IS
- KMID: 2269767
- Korean J Obstet Gynecol.
- 1999 Aug;42(8):1839-1843.
Cyclopia is rare congenital craniofacial anomaly, in which the eyes are fused together and located in a single orbit. It is consistently associated with severe holoprosencephaly, which is the failure... -
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- A Case of Multicystic Renal Dysplasia with Chromosomal Abnormality
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Lee MJ, Jung SI, Na JH, Kim JH, Jung JJ
- KMID: 1553266
- Korean J Perinatol.
- 1999 Mar;10(1):56-60.
Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of... -
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- A Case of Holoprosencephaly Associated with Chromosomal Deletion Diagnosed by Prenatal Ultreasound
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Sim JC, Bae CS, Yoon HW, Kim DH, Yang HS, Park TH, Kim JH, Choi SC
- KMID: 2071979
- Korean J Perinatol.
- 1998 Dec;9(4):434-439.
Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of... -
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- A Case of Cyclopia Delivered from a Diabetic Mother
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Chang YJ, Koh KS, Lee WK, Park CH
- KMID: 2271662
- Korean J Obstet Gynecol.
- 1997 Mar;40(3):645-651.
Cyclopia is a rare congenital fetal anomaly, characterized by a single median eye and a grotesquily shaped nose(proboscis) that arises from the supraorbital area. It is consistently associated with serere... -
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