Hereditary Phalangeal Agenesis showing dominant Mendelian Characteristics
نویسندگان
چکیده
منابع مشابه
Hereditary phalangeal agenesis showing dominant Mendelian characteristics.
A healthy baby, six months old, was brought to the Duchess of York Hospital, Manchester, in July, 1946, suffering from phimosis. It was noticed that his hands were deformed. His mother, formerly a nurse, was herself normal, but stated that the child's father and grandfather and -several other relatives were similarly affected. She was, therefore, asked to collect further information, from which...
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Various types of developmental malformation of the hands and feet have been described under such terms as polydactylism, syndactylism, brachydactylism, ectrodactylism, macrodactylism, hyperphalangia and hypopha1angia.l Familial tendencies have been recognized in the case of some of these anomalous conditions, but the first definite record showing that one of them is a unit-character inherited i...
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Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allow...
متن کاملComparison of phalangeal bone mineral content and density between the dominant and non-dominant sides.
OBJECTIVES Compared to the non-dominant side, higher bone mineral content (BMC) and density (BMD) have been demonstrated in the forearm bones in the dominant side. Clinicians are compelled to scan the dominant side when deformities or artifacts are found in the non-dominant side. This study was done to evaluate the differences in phalangeal BMC and BMD, measured using accuDXA, between the domin...
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BACKGROUND Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genet...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1947
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.22.112.251