Familial skeletal cardiovascular syndrome (Holt-Oram) in a polygamous African family.
نویسنده
چکیده
A polygamous Nigerian family with inherited skeletal cardiovascular anomalies (Holt-Oram syndrome) is described. Common to the affected individuals in this family were pectus excavatum and abnormalities of the thumbs. Atrial septal defect was proven by angiocardiography in one and clinically diagnosed in another member of the family. The mode of inheritance of the abnormalities in this family as in other reported cases is thought to be an autosomal dominant type which is unaffected by the polygamous situation.
منابع مشابه
A 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 ...
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Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...
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SUMMARY Holt Oram Syndrome consisting of upper limb defcts, cardiac anomalies and narrow shoulder, was first described by Holt and Oram in 1960. The inheritance pattern is autosomal dominant and most commonly encoutered cardiac anomalies being ASD, although all variaties of C.H.D are reported. Upper limb anomalies are not specific, although scaphoid bone deformity is almost characteristic in t...
متن کاملThe syndrome of familial defects of heart and upper extremities (Holt-Oram syndrome).
THE ASSOCIATION of atrial septal defect and anomalies of the upper extremities specifically involving one or both thumbs was first reported by Holt and Oram in 1960.1 In that same year, McKusick2 referred to this association in one family and used the term "atriodigital dysplasia" as well as the "HoltOram syndrome." Since that time one family has been reported by Zetterqvist,3 one family by Kuh...
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ورودعنوان ژورنال:
- British heart journal
دوره 32 2 شماره
صفحات -
تاریخ انتشار 1970