Conradi-Hünermann-Happle Syndrome (X-linked Dominant Chondrodysplasia Punctata) Confirmed by Plasma Sterol and Mutation Analysis
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome).
Chondrodysplasia punctata has been classified into two major types including the rare autosomal recessive "rhizomelic type" and a more common but genetically heterogenous nonrhizomelic type (referred to by some authors as "Conradi-Hünermann (CH) type"). The former is typically lethal, manifesting serious anomalies, and allowing several instances of confident prenatal diagnosis. The latter being...
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H ydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia is a rare lethal autosomal recessive skeletal dysplasia which is also known as Greenberg dysplasia. There are currently only seven published cases. X linked dominant chondrodysplasia punctata (Conradi–Hünermann syndrome) mainly affects females and is characterised by aberrant punctate calcification of cartilage or stippling of th...
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A prenatally ascertained case representing the more severe end of the X-linked dominant chondrodysplasia punctata (CDPX2).
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Chondrodysplasia punctata represents clinically and genetically a heterogeneous group of disorders characterized by the presence of multiple congenital anomalies and stippled epiphyses. We present clinical course of the disease and the results of metabolic, X-ray and molecular analyses in 19-months old girl with X-linked dominant chondrodysplasia punctata with intrauterine growth retardation, c...
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ژورنال
عنوان ژورنال: Acta Dermato-Venereologica
سال: 2008
ISSN: 0001-5555
DOI: 10.2340/00015555-0337