Case Series of Holt Oram Syndrome
*Corresponding Author: Chakradhar Maddela, Neonatologist, Associate Professor of Paediatrics, Prathama Institute of Medical Sciences, Nagunoor, Karimnagar, Telangana, India.
Received: March 01, 2021; Published: May 15, 2021
Pre-axial upper limb skeletal deformities involving thumb and radial bones are commonly associated with congenital cardiac defects. The common deformities are hypoplasia or aplasia of thumbs and radial bones. Skeletal involvement may be unilateral or bilateral. Atrial septal defect of ostium secundum is the most commonly associated congenital cardiac defect. Other possible cardiac defects are ostium primum variety of atrial septal defect, ventricular septal defects, patent foramen ovale and electric cardiac conduction abnormalities. The incidence is 1 in 1,00,000 live births. This syndrome involves TBX5 gene defect on long arm of chromosome 12. The most common inheritance pattern is autosomal dominant variety. New mutations are common. Antenatal detection by mid-trimester anomaly scan is possible.
Recently, we detected three cases of Holt Oram Syndrome at our health care facility during 2016 - 2019. These cases were presented with full spectrum of skeletal and cardiac defects in one case, near total expression in one case and partial expression of physical features in another case. Thumb abnormalities and cardiac defects involving atrial septal defect were found in all cases. All cases underwent second trimester anomaly scans but missed antenatal detection and lost potential antenatal counselling with parents.
Keywords: Heart Hand Syndrome; Thumb hypoplasia; Atrial Septal Defect (ASD); Forearm Skeletal Defects
Citation: Chakradhar Maddela. “ Case Series of Holt Oram Syndrome”. Acta Scientific Paediatrics 4.6 (2021): 36-41.
Copyright: © 2021 Chakradhar Maddela. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.