نتایج جستجو برای: van laere syndrome

تعداد نتایج: 686720  

2010
Ramachandra Reddy

1K Rajendra, 2TK Ramamurthy, 3K Gopikrishna, 4GV Ramachandra Reddy, 5K Srinivas, 6S Patil 1Postgraduate Student, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 2,4Professor, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 3Senior Lecturer, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Ka...

Journal: :Orphanet Journal of Rare Diseases 2007
Geneviève Baujat Martine Le Merrer

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound exami...

Journal: :Anales espanoles de pediatria 1974
A Mahakrishnan S Velu P I Pandian

A 21 years old male with typical features of Ellis-Van Creveld Syndrome is presented for its rarity. This is the second living case being reported from India.

Journal: :International perspectives on early childhood education and development 2023

Abstract When engaging in the re-theorisation of parental involvement (PI), we searched for theories that would (1) embrace more-than-parents as potential collaboration partners, (2) recognise role family child’s (educational) life, and (3) allow possibility overcoming “democratic deficit” (Van Laere et al., Eur Early Childhood Educ Res J 26(2):187–200. , 2018, p. 189), by which mean possibilit...

2016
Sabitha Gokulraj N. Mohan J. Babususai Raj S. Yasmeen Ahamed C. J. Stephen Arokiaraj A. Cicilia Subbulakshmi

Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndro...

Journal: :acta medica iranica 0
b. vafaee

studies have shown that there are psychiatric patients who tend to aggressively mutilate themselves; they burn or in most cases attempt to burn themselves, attempt to severely damage their genital organs (especially amputate their penis), castrate themselves, axtract their own eyes, amputate their own hands, or commit suicide. this report introduces two psychiatric men, aged 40 and 47, who had ...

Journal: :genetics in the 3rd millennium 0
hilda yazdan navid almadani ariana kaiminejad

ellis-van creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects.  we describe a 22-year-old boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multipl...

Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...

2014
Vincent Timmerman Peter De Jonghe

Many genes in which mutations cause motor neuron disorders have been identified, helping to provide early diagnosis or prognosis to patients; but there is still no cure for any of these pathologies. Only symptomatic and supportive therapies can provide better quality of life and may extend survival in the most severe cases, such as amyotrophic lateral sclerosis. In this issue of Brain, Foley an...

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