Holt-Oram syndrome revisited. Two patients in the same family
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منابع مشابه
Holt-Oram syndrome revisited. Two patients in the same family.
Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculos...
متن کاملA genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report
Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...
متن کاملHolt-Oram syndrome in a Maltese family.
Introduction Holt & Oram (1960) linked various skeletal abnormalities with congenital heart disease in four generations of a family. In particular, malformations of the hands were associated with atrial septal defect (secundum type) and bizarre arrhythmias. In 1961, McKusick described a similar syndrome in a mother and daughter and suggested the term 'atrio-digital dysplasia'. Harris & Osborne ...
متن کاملThe Holt-Oram syndrome.
The classical description of this syndrome of upper limb abnormalities and congenital heart lesions was by Holt and Oram in 1960.1 They were from King's College Hospital in London and reported a four generation family with nine affected subjects. Many other families were then recognised to have the same condition, which led to a series of reports in the early 1960s. The names atriodigital dyspl...
متن کاملHolt-Oram syndrome.
A29-year-old woman presented with dizziness. Physical and radiographic examinations showed skeletal hand malformations, ie, digitalized triphalangeal thumbs and dystrophy of the carpal bones. When she was 15 years old, an atrial septal defect had been repaired. ECG recordings showed abnormalities of atrial excitation such as a wandering pacemaker, atrial ectopic activity, AV-nodal block, and si...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Cardiologia
سال: 1999
ISSN: 0066-782X
DOI: 10.1590/s0066-782x1999001100003