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Cri-du-chat Syndrome with Dysphagia

Hong YC, Choi EJ, Ho YH, Lee OK, Kim YS

The cri-du-chat syndrome is a chromosomal disease caused by a deletion on the short arm of chromosome 5. Clinical features are characteristic facial features and high pitched cat like cry,...
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Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

Hong JH, Lee HY, Lim MK, Kim MY, Kang YH, Lee KH, Cho SG

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings...
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Two Cases of Cri Du Chat(5p-) Syndrome

Choi HS, Lee SS, Lee C, Chung KS, Kim PK, Kim KY, Han SS

  • KMID: 2011643
  • J Korean Pediatr Soc.
  • 1981 Jun;24(6):597-602.
We have experienced two cases of the Cri Du Chat Syndrome. The first case, 1 and 11/12 year old female, was admitted to evaluated profound mental retardation and failure to...
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A Case of Cri-du-chat Syndrome with Genitourinary Anomaly

Kim EH, Park JM, Park JY, Cho YJ, Lee SL, Kim JS, Chun HJ

  • KMID: 1605454
  • Korean J Perinatol.
  • 2001 Mar;12(1):44-48.
No abstract available.
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Ocular Findings in Cri Du Chat Syndrome: A Case Report

Kim SK, Kim HS, Kim SH

  • KMID: 2337749
  • J Korean Ophthalmol Soc.
  • 2008 Nov;49(11):1867-1870.
PURPOSE: To report the ophthalmologic examination of an infant who has cri du chat syndome with exotropia and facial abnormalities. CASE SUMMARY: A 7 - month - old infant was confirmed...
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Anesthetic experience of a patient with cri du chat syndrome

Han I, Kim YS, Kim SW

No abstract available.
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Lack of Myelination in the Anterior Limbs of the Internal Capsule Associated with Cri-du-Chat Syndrome: Case Report

Lee HJ, You SK, Lee SM, Cho HH

A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of...
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Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant

Jung YJ

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and...
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A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome

No SJ, Kim DO, Lee SM, Lee JS

  • KMID: 2043931
  • J Korean Child Neurol Soc.
  • 2012 Mar;20(1):23-27.
Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features,...
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Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
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Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report

So E, Kim S

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a...
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A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2 )

Lee SJ, Jeong JH, Cho SM

  • KMID: 1967602
  • J Korean Pediatr Soc.
  • 2000 Oct;43(10):1404-1408.
Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the criduchat syndrome. There are...
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Nodular Regenerative Hyperplasia of the Liver in an Infant: Case Report

Kim HK, Lee YH, Chung DS, Kim OD, Whang JB, Park JB

Nodular regenerative hyperplasia (NRH) of the liver is an uncommon disease entity, especially in the pediatricage group. A few cases have been reported in the radiologic literature, but follow-up imaging...
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The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome

Park SJ, Kim SR, Baek KN, Yoon JN, Jeong EJ, Kown JE, Kim HJ

  • KMID: 2288516
  • J Genet Med.
  • 2007 Dec;4(2):133-141.
PURPOSE: Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental...
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Clinical Study of Chromosomal Aberrations in Childhood

Park EA, Kim GH

The present report described the cytogenetic findings in 262 cases under the age of 15 years were suspected as having chromosomal abnormalities clinically at department of pediatrics. Ewha womans university...
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