Abstract
Holt-Oram syndrome (HOS) is characterised by skeletal abnormalities of the upper limb & congenital cardiac defects. Here we report a case of one day old male baby with skeletal abnormalities of forearms and hands, atrial septal defect of ostium secundum type and unilateral hypoplastic kidney. Till date, other associated anomalies like extra-hepatic portal hypertension, renal artery malformations etc have been reported with Holt-Oram syndrome, but it is the first case to be reported in association with hypoplastic kidney. DOI: http://dx.doi.org/10.3126/jnps.v33i1.7127 J Nepal Paediatr Soc. 2013;33(1):77-79
Highlights
Holt-Oram syndrome (HOS) is characterised by skeletal abnormalities of the upper limb with mild to severe congenital cardiac defects
Differential diagnosis considered in the present case was Fanconi anaemia (FA), Thrombocytopenia – absent radius (TAR) syndrome, VATER / VACTERL
Holt-oram syndrome has considerable overlap in the physical abnormalities with VATER /VACTERL syndromes, but the present case had no vertebral anomaly though there was hypoplastic kidney in the right side
Summary
Holt-Oram syndrome (HOS) is characterised by skeletal abnormalities of the upper limb with mild to severe congenital cardiac defects. It has autosomal dominant inheritance and near complete penetrance with variable expression[1]. A mutation in TBX5 gene located on chromosome 12 (12q24.1) has been associated with variable phenotypes[2,3]. This syndrome, first described in 19601, is referred to as Hand-Heart syndrome. A one-day-old, 2.4 kg, Hindu male baby, born out of non consanguineous marriage & delivered normally of a 25-year-old mother, was admitted in our nursery with several congenital anomalies of the upper limbs.
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