نتایج جستجو برای: cornelia de lange

تعداد نتایج: 1533736  

احسانی‌پور, فهیمه,

    Introduction: Cornelia de lange syndrome(CDLS) is a rare syndrome which is characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various ophthalmologic problems. The diagnosis of this syndrome is clinical. Case Report: The patient of the present case report was an infant with cornelia ...

Majtaba adineh Maryam saeidi, Reza saeidi,

Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...

Journal: :iranian journal of neonatology 0
reza saeidi associate professor of neonatology, neonatal research center, imam reza hospital, faculty of medicine, mashhad university of medical sciences, mashhad, iran maryam saeidi bsc in midwifery, mashhad university of medical sciences, mashhad, iran majtaba adineh fellowship of neonatology, imam reza hospital, faculty of medicine, mashhad university of medical sciences, mashhad, iran

cornelia de lange syndrome (cdls) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. in classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. in t...

Journal: :Paediatric anaesthesia 2009
Jin-Xing Liu Yu Sun Hong Jiang Ye-Sen Zhu

implications of Cornelia de Lange syndrome. Paediatr Anaesth 1998; 8: 159–161. 7 Lumb AB, Carli F. Respiratory arrest after a caudal injection of bupivacaine. Anaesthesia 1989; 44: 324–325. 8 Mizuno J, Ichiishi N, In-nami H et al. Anesthetic management in a patient with Cornelia de Lange syndrome. Masui 2004; 53: 921–924. 9 Papadimos TJ, Maro AP. Cornelia de Lange syndrome, hyperthermia and a d...

ژورنال: :مجله دانشگاه علوم پزشکی مازندران 0
جواد غفاری j ghaffari faculty of medicine, mazandaran university of medical sciences, sari, iranفوق تخصص آلرژی، عضو هیأت علمی (استادیار) دانشگاه علوم پزشکی مازندران وجیهه غفاری ساروی v ghaffari saravi محمدرضا فریبرزی m.r faribourzi

سندرم کورنلیا دلانژه (cornelia de lange) یک سندرم نادر مادرزادی همراه با ناهنجاری های متعدد از جمله ناهنجاری های صورت، رویش غیرعادی مو (hirsutism)، اختلال رشد قدی و وزنی و دور سر، نقایص قلبی، نقایص گوارشی، کلیوی و ناهنجاری اندام ها می باشد. شیوع بیماری 1 به 30000 تا 1 به 50000 می باشد. تشخیص این سندرم اساسا بر مبنای علایم بالینی است و اصولا بیماری به دو شکل اتوزوم غالب و وابسته به کروموزوم x می...

غفاری , جواد, غفاری ساروی , وجیهه, فریبرزی , محمدرضا,

Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two...

2012
Rose H. Mende David P. Drake Raimos M. Olomi Ben C. J. Hamel

Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of...

2011
Hamid Galehdari Roya Monajemzadeh Habibolah Nazem Gholamreza Mohamadian Mohammad Pedram

BACKGROUND Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern have been identified in Cornelia de Lange syndrome. CASE PRESENTATION A two-month-old Iranian boy who showed multiple congenital anomalies w...

Journal: :American journal of mental retardation : AJMR 2008
Joanna F Moss Chris Oliver Katy Berg Gurmeash Kaur Lesley Jephcott Kim Cornish

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [...

Journal: :Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2012
Nida Noor Zehra Kazmi Ayesha Mehnaz

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. We present here a case of newborn ma...

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