PDF] Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome

A typical six-month-old girl with Rubinstein–Taybi syndrome was presented with typical facial changes including downward-sloping palpebral fissures, prominent forehead, hypertelorism, limited mouth opening, large beaked nose, and high arched palate. Rubinstein–Taybi syndrome (RTS) was first described by Michail et al[1] and subsequently by Rubinstein and Taybi[2]. We present a typical six-month-old girl with RTS. Her mother had ovarian cancer and polyhydramnios during the pregnancy. Parents are closely related. There were frequent respiratory infections resulting in two hospital admissions. Physical examination revealed typical facial changes including downward-sloping palpebral fissures, prominent forehead, hypertelorism, limited mouth opening, large beaked nose, and high arched palate (Fig. 1). A history of increased tearing was compatible with nasolacrimal duct obstruction. Other features include general hypotonia with delayed developmental milestones, short and broad thumbs and toes (Fig. 1). Chest x-ray showed cardiomegaly (Fig. 2). She had normal karyotype.

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