- Correction of Macrocephaly using Sagittal Hinge Flap
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Kang MB, Chung JH, Yun SH, Park MC
- KMID: 2203790
- J Korean Soc Plast Reconstr Surg.
- 2001 Sep;28(5):576-580.
Macrocephaly commonly occurs in children with untreated or neglected hydrocephalus, and in most cases this is accompanied with discrepancy between the volume of the brain and the cranial cavity. Macrocephaly... -
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- Clinical features of macrocephaly at birth in Korea
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Jeong G, Kim M, Han BH
- KMID: 1875965
- Korean J Pediatr.
- 2014 Feb;57(2):75-78.
- doi: 10.3345/kjp.2014.57.2.75
PURPOSE: This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography. METHODS: We retrospectively investigated the medical records of full-term birth neonates in Cheil General... -
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- A Case of Severe Subdural Hematoma Accompanied with Macroephaly Following skull Fracture
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Lee HI, Koo CK, Oh JS, Kang CM
- KMID: 2208750
- J Korean Pediatr Soc.
- 1977 Nov;20(11):888-892.
A case of severe subdural hematoma accompanied with macrocephaly following skull fracture, 2 years and 6 months old male, was presented. Diagnosis was made by subdural aspiration, skull X-ray, cerebral... -
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- A Case of Glutaric Aciduria Type I with Macrocephaly
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Shin WJ, Moon YO, Yoon HR, Dong ES, Ahn YM
- KMID: 2104626
- J Korean Pediatr Soc.
- 2003 Mar;46(3):295-301.
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly... -
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- Autosomal Dominant Inherited Cowden's Disease in a Family
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Ha JW
- KMID: 1792646
- Clin Endosc.
- 2013 Jan;46(1):85-90.
- doi: 10.5946/ce.2013.46.1.85
Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple... -
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- A Case of Developmental Delay with Canavan's Disease: A case report
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Shin SH, Oh JH, Park NH, Yoo HJ, Kim YK
- KMID: 2324789
- J Korean Acad Rehabil Med.
- 2008 Apr;32(2):239-243.
Canavan's disease is a hereditary disease that causes development delay by demyelinization of white matter in brain. The cardinal symptoms of Canavan's disease are head-lag, macrocephaly, developmental delay, blindness, epilepsy... -
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- A Case of Glutaric Aciduria Type 1
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Song JY, Kim CM, Shin YL, Yoo HW
- KMID: 2335675
- J Korean Pediatr Soc.
- 2002 Oct;45(10):1278-1282.
Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted... -
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- Observations on the Activation of Chronic Compensated Hydrocephalus in Adult Patients
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Jeon SI, Seo DH, Kwon YS, Choe IS, Park SC
- KMID: 1427728
- Korean J Neurotrauma.
- 2012 Oct;8(2):139-145.
- doi: 10.13004/kjnt.2012.8.2.139
OBJECTIVE: There is a broad spectrum of compensated hydrocephalus. Various terms such as long-standing overt ventriculomegaly in adult (LOVA) has been coined, however, even such terms leave diverse aspect of... -
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- A Case of Weaver Syndrome
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Byun JC, Kim CS, Lee SL, Kwon TC, Lee HJ
- KMID: 1655420
- Korean J Pediatr.
- 2004 Nov;47(11):1216-1219.
Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations... -
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- A case of hemimegalencephaly with congenital foot deformity
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Cheong YH, Park EA, Park KK, Jeon GW, Sin JB
- KMID: 2280783
- Korean J Perinatol.
- 2008 Sep;19(3):308-311.
Hemimegalencephaly is a rare congenital malformation of the cortical development arising from abnormal proliferation of anomalous neuronal and glial cells. The characteristic clinical manifestations are macrocephaly, psycomotor retardation, intractable seizure... -
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- Huge Choroid Plexus Carcinoma in an Infant
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Kim HY, Hwang YS, Shin HS, Park SK
- KMID: 2339720
- J Korean Neurosurg Soc.
- 2003 Nov;34(5):480-483.
Choroid plexus carcinoma is a rare malignant brain tumor that occurs predominantly in childhood. A 203-day-old infant was admitted to our hospital with macrocephaly and right hemiparesis. The skull protruded... -
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- Management of Proteus Syndrome with Craniofacial Hemihyperostosis: Case Report
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Yun YE, Seol KY, Oh MS, Choi JG, Kim SJ, Lee DK, Kang JY
- KMID: 2136938
- J Korean Assoc Maxillofac Plast Reconstr Surg.
- 2011 Nov;33(6):540-548.
Proteus syndrome is a congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Proteus syndrome features partial gigantism and asymmetry of the limbs, plantar... -
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- A case of megalencephalic leukoencephalopathy with subcortical cysts
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Park EY, Kim YO, Kim JY, Yeo CY, Baek HJ, Kim CJ, Kim EY, Woo YJ
- KMID: 1494526
- Korean J Pediatr.
- 2008 Dec;51(12):1342-1345.
- doi: 10.3345/kjp.2008.51.12.1342
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse... -
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- The First Neurosurgical Analysis of 8 Korean Children with Sotos Syndrome
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Lim JJ, Yoon SH
- KMID: 2189579
- J Korean Neurosurg Soc.
- 2008 Oct;44(4):240-244.
- doi: 10.3340/jkns.2008.44.4.240
OBJECTIVE: Sotos Syndrome is characterized by macrocephaly, overgrowth, and developmental delay, and more than 300 patients have been reported worldwide to date. The authors reviewed the clinical characteristics of 8... -
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- A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
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Noe EJ, Yoo HW, Kim KN, Lee SY
- KMID: 1455879
- Korean J Pediatr.
- 2010 Dec;53(12):1022-1025.
- doi: 10.3345/kjp.2010.53.12.1022
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head... -
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- A Case of Canavan Disease
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Son YH, Hwang TG, Sinn JB
- KMID: 1607054
- J Korean Pediatr Soc.
- 2003 Sep;46(9):934-938.
Canavan disease, also known as van Bogaert-Bertrand disease, is a rare autosomal recessive disorder characterized by early an onset and a progressive spongyform degeneration of the brain, associated with an... -
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- A Case of Infantile Alexander Disease
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Park GM, Ko JH, Min KS
- KMID: 2329431
- J Korean Child Neurol Soc.
- 2009 Nov;17(2):215-220.
Alexander disease(AD) is a rare fatal demyelinating disorder, caused by the mutation of glial fibrillary acidic protein(GFAP) gene. It is characterized by progressive demyelination of central nervous system, and the... -
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- Costello syndrome: three sporadic cases
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Kim JY, Kim MJ, Song ES, Jho YK, Choi YY, Ma JS
- KMID: 2279318
- Korean J Pediatr.
- 2007 Oct;50(10):1024-1029.
- doi: 10.3345/kjp.2007.50.10.1024
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding... -
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- Dandy-Walker Syndrome Confused with Peripheral Vestibular Neuronitis
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Cha HE, Jung JH, Yoon JH, Lee JH
- KMID: 1518522
- J Korean Bal Soc.
- 2007 Jun;6(1):57-60.
Dandy-Walker syndrome is congenital malformation characterized by cystic enlargement of the fourth ventricle and agenesis or hypogenesis of the cerebellar vermis. The major clinical symptoms of the disease are hydrocephalus,... -
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- Thanatophoric dysplasia in a dizygotic twins conceived by intrauterine insemination
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Park TW, Park WI, Kim DW, Shin YJ, Kim EK
- KMID: 2076748
- Korean J Obstet Gynecol.
- 2002 Nov;45(11):2020-2026.
Twin gestations complicated by a single anomalus fetus present difficulties in obstetric management. It is unclear how the presence of a congenital anomaly in one twin affects its normal sibling.... -
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