Heart-hand syndrome is a heterogenous group of congenital disorders characterized
by upper limb anomalies and congenital heart defects. We report the antenatal scan
findings in a 14 week fetus in which bilateral radial ray defect was detected along
with cardiac malformations at routine first trimester aneuploidy scan. The cardiac
malformations were pulmonary atresia with ventricular septal defect. This was confirmed
by clinical and pathological correlation. There are few case reports of early prenatal
detection of this syndrome at 14 weeks.
Keywords
Holt–Oram syndrome (HOS) - Heart-hand syndrome - Upper limb anomalies - Congenital
heart defects - First trimester - Prenatal diagnosis
