- A Case of Microcephaly and Early-onset Nephrotic Syndrome: Galloway-Mowat Syndrome
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Yoo BW, Cho SM, Kie JH, Jung HJ, Kim KH
- KMID: 2098798
- J Korean Soc Pediatr Nephrol.
- 2003 Oct;7(2):197-203.
The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with various neurological abnormalities and early onset of nephrotic syndrome with unresponsiveness to treatment, progressive deterioration in renal... -
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- First Turkish Patient with Floating Harbor Syndrome with Additional Findings: Cryptorchidim and Microcephaly
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Selimoglu , Selimoglu , Ertekin V, Caner I, Orbak Z
- KMID: 2428332
- Yonsei Med J.
- 2004 Apr;45(2):334-336.
We report the first Turkish patient with Floating Harbor Syndrome (FHS). The 12-year old male patient exhibited classical dysmorphic features of FHS, mental retardation, celiac disease and additional undescribed findings:... -
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- Determination of Mother Centriole Maturation in CPAP-Depleted Cells Using the Ninein Antibody
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Lee M, Rhee K
- KMID: 2407104
- Endocrinol Metab.
- 2015 Mar;30(1):53-57.
- doi: 10.3803/EnM.2015.30.1.53
BACKGROUND: Mutations in centrosomal protein genes have been identified in a number of genetic diseases in brain development, including microcephaly. Centrosomal P4.1-associated protein (CPAP) is one of the causal genes... -
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- A Case of Cerebral Dystrophy and Cerebellar Atropy in Seckel Syndrome
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Yoon JW, Lim JW, Cheon EJ, Ko KO, Lee YH
- KMID: 1528192
- J Korean Child Neurol Soc.
- 2007 May;15(1):121-125.
Seckel syndrome is a rare autosomal recessive disease. The characteristic features of Seckel syndrome include Intrauterine and postnatal growth deficiency, severe microcephaly, and a bird-like head. General appearance of our... -
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- Galloway-Mowat Syndrome in Two Siblings
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Jung HS, Cho EY, Lim JY, Seo JH, Choi MB, Park CH, Woo HO, Youn HS
- KMID: 1606478
- J Korean Pediatr Soc.
- 2001 Sep;44(9):1081-1084.
We report on two Korean siblings with multiple congenital anomalies : microcephaly, gyral abnormality, minor facial anomalies, and congenital nephrotic syndrome. The first infant developed proteinuria at age 3 days.... -
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- Zika Virus Infection: Perspectives as a Specialist of Pediatric Infectious Diseases
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Yun KW
- KMID: 2163217
- Pediatr Infect Vaccine.
- 2016 Apr;23(1):1-9.
- doi: 10.14776/piv.2016.23.1.1
The Zika virus, a flavivirus related to dengue and Japanese encephalitis was discovered in the Zika forest in Uganda, 1947. Since Zika virus was first reported in Brazil in May... -
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- A Case of Chromosome 1q44 Deletion with Microcephaly and Multiple Congenital Anomalies
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Lee JE, Jung JS, Jeon GW, Sin JB
- KMID: 2280960
- Korean J Perinatol.
- 2014 Jun;25(2):95-99.
- doi: 10.14734/kjp.2014.25.2.95
The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical... -
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- Bilateral neuroblastoma in situ associated with microcephaly
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Park WS, Chi JG
- KMID: 1421959
- J Korean Med Sci.
- 1993 Apr;8(2):99-103.
- doi: 10.3346/jkms.1993.8.2.99
We present an autopsy case of a two-day-old female infant with a very unusual combination of neuroblastoma in situ in both adrenals and microcephaly. This baby was born to a... -
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- Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report
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Kim TH, Kim YU, Song JG, Hwang JH
- KMID: 2092209
- Korean J Anesthesiol.
- 2009 Jun;56(6):717-719.
- doi: 10.4097/kjae.2009.56.6.717
Seckel syndrome, also called bird-headed dwarfism, is an extremely rare, inherited, autosomal recessive disorder. The patients with Seckel syndrome are characterized by growth retardation, microcephaly with mental retardation, proportional dwarfism,... -
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- Chromosome 7q Deletion Syndrome [46, XX, del(7)(q34)] with Hydronephrosis
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Sung NJ, Kim MJ, Kim YH, Jung JA, Yang S, Hwang IT, Lee HR
- KMID: 2144544
- J Korean Soc Neonatol.
- 2005 Nov;12(2):217-221.
Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a "7q deletion syndrome" include; low birth weight, postnatal growth... -
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- FOXP3 Mutation in a Patient with Proportional Microcephaly and Developmental Delay
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Cho HJ, Choi GE, Kim YO, Park C, Yang EM, Kim CJ, Kim MK, Shin MG, Woo YJ
- KMID: 2403731
- J Korean Child Neurol Soc.
- 2017 Dec;25(4):266-270.
- doi: 10.26815/jkcns.2017.25.4.266
Most cases of microcephaly with growth failure and developmental delay have a genetic or metabolic etiology. Whole-exome sequencing (WES) has uncovered many causative genes and has also broadened their phenotypic... -
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- Evaluation and Management of Neonates with Possible Congenital Zika Virus Infection
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Yun KW
- KMID: 2388974
- Neonatal Med.
- 2017 Aug;24(3):110-115.
- doi: 10.5385/nm.2017.24.3.110
Zika virus infection is, typically, either asymptomatic or causes mild illness; however, it may present severe clinical manifestations in neonates. Zika virus can be transmitted from a pregnant woman to... -
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- A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia
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Lee JK, Chung SH, Choi YS, Bae CW
- KMID: 2367038
- Perinatology.
- 2016 Dec;27(4):255-259.
- doi: 10.14734/PN.2016.27.4.255
The chromosome 7q terminal deletion is a rare chromosomal disorder. It was first described in 1968 and has shown to have diverse clinical phenotypes. In this report, the phenotypes include... -
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- A Critical Role of GIT1 in Vertebrate and Invertebrate Brain Development
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Hong ST, Mah W
- KMID: 2052847
- Exp Neurobiol.
- 2015 Mar;24(1):8-16.
- doi: 10.5607/en.2015.24.1.8
GIT1, a multifunctional signaling adaptor protein, is implicated in the development of dendritic spines and neuronal synapses. GIT1 forms a signaling complex with PIX, RAC, and PAK proteins that is... -
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- G Deletion Syndrome II
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Koo BS, Park SU, Lim YT, Park HJ
- KMID: 2208339
- J Korean Pediatr Soc.
- 1995 Feb;38(2):240-244.
We experienced a case of G deletion syndrome II in a 8 year and 1 month old boy. He showed mental retardation, microcephaly, high arched palate, low set malformed ears,... -
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- A case of Rett syndrome
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Kim HS, Lee K
- KMID: 1945956
- J Korean Pediatr Soc.
- 1993 May;36(5):743-747.
Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These girls are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6... -
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- The Evaluation of Functional Status in Adult Cerebral Palsy in Rehabilitation Facility
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Lee DH, Jang SH, Lee SG, Kim MJ
- KMID: 2323940
- J Korean Acad Rehabil Med.
- 2003 Dec;27(6):845-849.
OBJECTIVE: The aim of this study was to investigate the medical status, the complication and the functional status in adult patients with cerebral palsy in rehabilitation facility. METHOD: The subjects... -
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- A Case of Congenital Rubella Syndrome
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Yoon KC, Moon KH, Joo CU, Cho SC, Kim JS
- KMID: 1838625
- J Korean Soc Neonatol.
- 1998 Jun;5(1):104-108.
We experienced a case of congenital rubella syndrome manifesting patent ductus arteriosus, petechiae, microcephaly, intrauterine growth retardation, and hepatomegaly in one-day-old female newborn infant. Congenital rubella syndrome was confirmed by... -
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- Amniotic Band Syndrome: An autopsy case report
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Ahn HS, Han GR, Sohn JH, Suh JI
- KMID: 2274834
- Korean J Pathol.
- 1989 Dec;23(4):482-486.
We report an autopsy case of amniotic band syndrome exhibiting microcephaly, asymmetric encephalocele, microphthalmia, nasal deformity, cleft lip and palate accompanied by left maxillary and zygomatic bone deformities. The amniotic... -
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- A Case of 13 Ring Chromosome Syndrome
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Park CJ, Lim BI, Cho HJ, Song KY, Kim KW
- KMID: 2177141
- J Korean Child Neurol Soc.
- 1998 May;5(2):383-387.
We have experienced a case of 13 ring chromosome in a 40-month-old girl who demonstrated psychomotor retardation with delayed speech, growth retardation, hearing loss(left), microcephaly, trigonocephaly with flat occiput, hypertelorism,... -
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