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Published:
Aug 10, 2022DOI:
10.4314/thrb.v23i2.9Keywords:
Holt-Oram syndrome, Heart-hand syndrome, Ventricular Septal defect, TBX5 gene
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Holt-Oram Syndrome; A Case report
Rahim Damji
MUHAS
Ben Hamel
Department of Human Genetics, Radboud university medical centre, Nijmegen
Yahya Binde
1Regency Medical Centre, Department of Paediatrics
Kamaria Kassim
Regency Medical Centre, Department of Paediatrics, Dar es salaam
Abstract
Holt-Oram syndrome is a rare genetic autosomal dominant disorder which affects the preaxial radial ray of the upper limbs and septation of the heart and/or cardiac conduction. The present article describes the clinical and radiological features of Holt–Oram syndrome in a Tanzanian patient.
This case emphasises the importance of proper prenatal screening for congenital anomalies and counselling of the parents.