Holt-Oram syndrome associated with aortic atresia: A rare association
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منابع مشابه
Holt-Oram Syndrome: A Rare Variant
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...
متن کاملHolt-Oram Syndrome: A Rare Variant
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...
متن کاملHorseshoe Lung Associated With Holt-Oram Syndrome
Horseshoe lung is an uncommon congenital malformation in which the bases of the right and the left lungs are fused to each other by a narrow isthmus posterior to the cardiac apex (1). There have been 52 case reports in the English literature. Holt-Oram syndrome is characterized by cardiac septation defects and preaxial radial ray abnormalities (2). To our knowledge, it is the first report of ho...
متن کاملholt-oram syndrome: a rare variant
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...
متن کاملA 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...
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ژورنال
عنوان ژورنال: Heart Views
سال: 2016
ISSN: 1995-705X
DOI: 10.4103/1995-705x.182644