Severe cardiac anomalies in sibs with Larsen syndrome.
                    
                        
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                    چکیده
منابع مشابه
Severe cardiac anomalies in sibs with Larsen syndrome.
Larsen syndrome is characterised by congenital anterior dislocation of the knees, associated with other joint dislocations, and a characteristic facies. Autosomal recessive and dominant inheritance have been proposed. A brother and a sister with consanguineous parents, suggesting autosomal recessive inheritance, were found to have the typical features of Larsen syndrome. In addition, they had s...
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UNLABELLED Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. OBJECTIVE. To present a family with two half siblings with a severe pheno...
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Cardiac glycogenosis is a disease causing death in early infancy due to the accumulation of glycogen in the heart and other organs. The inborn error of metabolism responsible for the deposition of glycogen in heart muscle has been found to be due to a deficiency of x-glucosidase (Hers, 1963). Previously, other workers had not identified an enzyme disturbance (Cori, 1954; Stoeckle, Goldman, and ...
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We describe a new familial case of ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) in a woman of 29 years and in her brother of 30 years. The proband showed mental retardation, facial anomalies, recurrent respiratory infections, combined deficit of IgM and IgE immunoglobulin classes, and paracentromeric heterochromatin instability of chromosomes 1, 9, and 16. The brot...
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History and clinical findings A 12-year-old boy presented to a paediatric rheumatology clinic with a 2-month history of painful knees. He had been referred from the paediatric oncology department with a previous diagnosis of acute lymphocytic leukaemia, in remission for 5 years. The pain was felt just below the patella, especially after a game of soccer, climbing stairs or walking for long dist...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1983
ISSN: 1468-6244
DOI: 10.1136/jmg.20.6.422