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• W36788966 abstract "Joubert syndrome (JS) is an autosomal recessive disorder with brainstem and cerebellar malformations mainly in the form of agenesis or dysgenesis of cerebellar vermis. The main clinical features of syndrome are generalized hypotonia, an abnormal respiratory pattern of alternating episodic tachypnea-hyperpnea and apnea, oculomotor apraxia, developmental delay and the presence of molar tooth sign on axial magnetic resonance imaging (3, 4, 6). There are some cases associated with congenital cardiac abnormalities in the literature (1,2). Here, we present a typical case of Joubert syndrome with patent ductus arteriosus and tricuspid insufficiency, which were not reported before. A 1-day-old girl was admitted for evaluation of apnea with cyanosis and dysmorphic face. She was born with cesarean section and had resuscitation because of apnea and cyanosis after delivery. The baby was the product of a third pregnancy with normal gestational period without any risk factors. Her mother was 30-year-old. She had two stillborns with unknown etiology. Those two babies were not examined because they had been born at home. There was a second degree relationship between the parents. On physical examination she had low spontaneous movements, intercostals retractions, dysmorphic face, and hypotonic posture (frog-leg position). Her body measurements were as follows: weight was 3870 g (p 75), height 49 cm (p 50), head circumference 37.5 cm (p 90) and body temperature 37°C. Epidermal hemangiomas were noted on both eyelids and other parts of the face. Large head, prominent forehead, depressed nasal root, upturned nose with evident nostrils, oval shaped open mouth and low-set and tilted ears were also noted (Figs 1 and 2). She had preaxial Polydactyly on both hands. Heart rate was 117 beats per minute with 2/6 systolic murmur at the left side and near the bottom of the sternum. Auscultation of the lung was unremarkable. Abdominal examination was normal. Ocular examination was normal except horizontal nystagmus. Laboratory examinations revealed normal blood counts and biochemical analysis. Echocardiographic examination showed a patent ductus arteriosus (PDA) and tricuspid insufficiency (TI). Radiological examination of hands confirmed bilateral preaxial Polydactyly Chest X-ray was normal. Kidneys, liver and pancreas were normal in size and shape without any anomaly on abdominal ultrasonography. Magnetic resonance imaging of brain revealed cerebellar vermis hypoplasia, typical 'molar tooth sign' and cystic dilatation associated with the fourth ventricle (Fig. 3). On the first day of hospitalization, she was followed for respiratory and feeding problems. She was very hypotonic and was breathing periodically with hyperpnea and apnea patterns. She could not suck breast milk because of severe the hypotonia and was fed via orogastric tube for 25 days. After 1 month, she could swallow formula with spoon and sucked her mother poorly. Respiratory problems improved gradually and breathing pattern became almost normal. She was allowed to go home and was followed up closely. …" @default.
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• W36788966 date "2009-01-01" @default.
• W36788966 modified "2023-10-17" @default.
• W36788966 title "Joubert Syndrome Associated with Patent Ductus Arteriosus in a Newborn Infant" @default.
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