Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes EVC syndrome in two sisters of Indian origin, ages 8 and 6 years, the products of nonrelated, unaffected parents. The patients had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly, severely dystrophic nails, partially absent teeth, and short and bound-down upper lips with multiple frenulae. Other features noted in the girls were syndactyly and mild mitral regurgitation. All four of the classic features of EVC syndrome were present in patient 1 and three in patient 2. Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously. The importance of prenatal diagnosis of EVC is stressed and a multidisciplinary approach for the management of these patients is highlighted.
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PMID:Ellis-van Creveld Syndrome: a report of two cases. 1184 33

Ellis-van Creveld syndrome (chondroectodermal or mesoectodermal dysplasia) is an autosomal recessive disorder. Initial reports of the syndrome identified a tetrad of clinical manifestations, including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease (CHD). Additional involvement may occur in organs of endodermal origin, such as the pulmonary, renal, gastrointestinal (hepatic and pancreatic), hematologic, and central nervous systems. The perioperative care of a 2-year, 8-month-old girl who underwent surgical correction of CHD is presented.
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PMID:Anesthetic implications of Ellis-van Creveld syndrome. 1910 Sep 37

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disorder. It is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease. In several case reports, dysplasia involving other organs has also been identified. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Many Indian cases have also been reported. This report describes a classical case of EVC syndrome in a 22 year old woman of Indian origin born of a consanginous marriage. The patient had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, postaxial polydactyly, severely dystrophic nails, partially absent teeth, pectus excavatum with narrow chest, knock knees and AV canal defect.
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PMID:Ellis van Creveld syndome. 2032 17

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. To our knowledge, this association has been previously reported in 3 patients in the literature.
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PMID:Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. 3055 60