نتایج جستجو برای: macrocephaly

تعداد نتایج: 695  

2012
C. Mortellaro L. Bello A. Greco Lucchina

background Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a craniofacial defect secondary to macrosomia; a case is presented in order to increase knowledge of the related complications in particular with respect to craniofacial development. case report We report a case of M-CMTC evaluated from the genetic standpoint and that of craniofacial development. The aim was to analys...

2017
Kit San Yeung Winnie Wan Yee Tso Janice Jing Kun Ip Christopher Chun Yu Mak Gordon Ka Chun Leung Mandy Ho Yin Tsang Dingge Ying Steven Lim Cho Pei So Lun Lee Wanling Yang Brian Hon-Yin Chung

Background Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to...

Journal: :Journal of medical genetics 2005
M G Butler M J Dasouki X-P Zhou Z Talebizadeh M Brown T N Takahashi J H Miles C H Wang R Stratton R Pilarski C Eng

The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. Therefore,...

Journal: :Archives of Iranian medicine 2006
Yousef Shafeghati Ghazal Vakili Ali Entezari

L-2-hydroxyglutaric aciduria is a rare and novel autosomal recessive inherited neurometabolic disorder. Since its first description by Duran in 1980, less than 100 cases have so far been reported. Occurring mostly in childhood, it is characterized by slowly progressive neurological dysfunction with cerebellar ataxia, pyramidal signs, intellectual decline, seizure, and extrapyramidal symptoms. M...

Journal: :Pediatrics 1997
R Wright D Johnson M Neumann T G Ksiazek P Rollin R V Keech D J Bonthius P Hitchon C F Grose W E Bell J F Bale

OBJECTIVE To describe the clinical characteristics of intrauterine infection with lymphocytic choriomeningitis (LCM) virus, an uncommonly recognized cause of congenital viral infection. PATIENTS Three infants born in the midwestern United States in 1994 and 1995 with clinical features and serologic studies consistent with congenital LCM virus infection and cases of congenital infection identi...

Journal: :Journal of the International Neuropsychological Society : JINS 2008
Howard B Cleavinger Erin D Bigler Jamie L Johnson Jeffrey Lu William McMahon Janet E Lainhart

A detailed morphometric analysis of the cerebellum in autism with and without macrocephaly. Four subject groups (N = 65; male; IQs > or = 65; age 7 to 26 years) were studied with quantitative MRI; normocephalic and macrocephalic individuals with autism without mental retardation were compared to normocephalic and benign macrocephalic typically developing individuals. Total cerebellum volumes an...

Journal: :American Journal of Medical Genetics Part A 2012

Journal: :Arquivos de neuro-psiquiatria 2002
Débora Gusmão Melo Angelina Xavier Acosta Maria Aparecida de Almeida Salles João Monteiro de Pina-Neto José Daniel Vieira de Castro Antonio Carlos Santos

Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings.

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