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.

Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21

Patent Ductus Arteriosus: A Contemporary Perspective for the Pediatric and Adult Cardiac Care Provider

PDF) Patent ductus arteriosus: The physiology of transition

JaypeeDigital

PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report

Diagnosis of patent ductus arteriosus (PDA) in premature babies

Definitive Closure of the Patent Ductus Arteriosus in Preterm Infants and Subsequent Short-Term Respiratory Outcomes

PDF] Patent ductus arteriosus closure using an Amplatzer ventricular septal defect closure device in adulthood

PDF] Percutaneous Patent Ductus Arteriosus (PDA) Closure in Very Preterm Infants: Feasibility and Complications

PDF] Patent ductus arteriosus closure using an Amplatzer ventricular septal defect closure device in adulthood

PDF] Percutaneous Patent Ductus Arteriosus (PDA) Closure in Very Preterm Infants: Feasibility and Complications

Patent arterial duct, Orphanet Journal of Rare Diseases