Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report
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چکیده
منابع مشابه
A Case of Holt - Oram Syndrome
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 کاملHolt-Oram syndrome (case report).
The Holt–Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene (12q24.1), affecting one in 100 000 live births. 60% of cases are familial and 40% sporadic. We present the case of a 8 months old male patient presented with respiratory problem .Patient had characteristic right sided han...
متن کاملHolt-Oram syndrome--a case report.
Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-ol...
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 کاملA case report on holt-oram syndrome (heart-hand)
BACKGROUND The Holt-Oram Syndrome (HOS) or the Heart-Hand syndrome is considered as an overt autosomal hereditary disease with a complete influential effect and variable expression that emerges due to a genetic mutation. It can be vividly characterized by heart disorders and deficiencies in hand structure. Despite the existing genetic heterogeneity, the variable integration between HOS and the ...
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ژورنال
عنوان ژورنال: European Heart Journal - Case Reports
سال: 2019
ISSN: 2514-2119
DOI: 10.1093/ehjcr/ytz206