نتایج جستجو برای: ellis van creveld syndrome
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A six year old child with symmetric polydactyly of both hands and genu valgum deformity was referred for radiographic assessment. On physical examination, there were six digits in both hands with dysplastic finger nails. The upper and lower extremies were shortened out of proportions to the trunk with genu valgum deformity. Radiograph of hands revealed bifid 5th metacarpals and complete duplica...
Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones re...
Ellis–van creveld syndrome is a rare autosomal recessive syndrome of the heart, skeleton and most of the ectodermal derivatives. It is caused due to genetic defects in the chromosome 4p16; it belongs to short rib-polydactyly group (SRP). It is characterized by short ribs, short limb, polydactyly, ectodermal dysplasia and congenital heart defects. The oral manifestation is one of the main charac...
Cohort Profile: The PharmAccess African (PASER-M) and the TREAT Asia (TASER-M) Monitoring Studies to Evaluate Resistance—HIV drug resistance in sub-Saharan Africa and the Asia-Pacific Raph L Hamers,1*y Rebecca Oyomopito,2,3y Cissy Kityo, Praphan Phanuphak, Margaret Siwale, Somnuek Sungkanuparph, Francesca Conradie, Nagalingeswaran Kumarasamy, Mariette E Botes, Thira Sirisanthana, Saade Abdallah...
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal re...
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