نتایج جستجو برای: de lange syndrome

تعداد نتایج: 2119379  

Journal: :Masui. The Japanese journal of anesthesiology 2004
Ju Mizuno Noriko Ichiishi Hiroshi In-nami Kazuo Hanaoka

An eight-year-old boy with Cornelia de Lange syndrome underwent left inguinal hernioplasty and orchiopexy under general anesthesia. The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as cleft palate, micrognathia, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc. W...

Journal: :Korean journal of ophthalmology : KJO 2005
In Tae Kim Joo Wan Park Woong Chul Choi

PURPOSE Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cut...

2017
Laura Avagliano Paolo Grazioli Milena Mariani Gaetano P Bulfamante Angelo Selicorni Valentina Massa

Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is d...

2015
Lucia Parisi Teresa Di Filippo Michele Roccella

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of C...

Journal: :The Medical journal of Malaysia 2007
C T Ngo M Alhady A K Tan I Siti Norlasiah G B Ong C N Chua

A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial chromosome 13q deletion involving band 14 which is associated with a high risk of retinoblastoma. This case sho...

Journal: :Journal of intellectual disability research : JIDR 2005
J Moss C Oliver S Hall K Arron J Sloneem J Petty

BACKGROUND There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD A descriptive a...

Journal: :Cases Journal 2008
Hakan Uzun Dursun Ali Senses Munevver Uluba Kenan Kocabay

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary w...

2016
Diogo Miguel Santos Rombo Ana Maria Sebastião Maria Ferreira Vickram Ramkumar Roberto Paes

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