Merhaba Misafir

Possible Holt-Oram syndrome: Missed prenatal diagnosis and sub-optimal management in a poor-resourced hospital


Holt–Oram syndrome is a rare autosomal dominant condition resulting from a gene mutation on 12q24.1 (TBX5) and causes anomalies in bony segment of the upper limbs and the cardiovascular system (1). This syndrome is the most common among the six Heart–hand syndromes (2). Other differentials to be considered include Fanconi anemia, TAR syndrome, Baller Gerold syndrome, and Nager syndrome. The first case was reported in 1960; since then, more than 300 cases have been reported. The diagnosis is confirmed by TBX5 gene analysis (3-5). A male baby was delivered via cesarean section at 39 weeks, on account of fetal distress (fetal heart rate <100 beats/min) and polyhydramnious, to a 40-year-old para five woman who had no history of consanguinity, antenatal morbidities, nor family history of similar presentation at birth. Cardiotocography for non-stress testing was unavailable; hence, the decision for the procedure was purely clinical.

Yayınlandığı Kaynak : Balkan Medical Journal