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• W2331189495 abstract "Escobar syndrome is a rare disease characterized by multiple ptergia, skin webs and congenital anomalies like craniofacial defects, vertebral anomalies, cleft palate, kyphosis and scoliosis. Despite the passage of the disease is reported as an autosomal recessive, autosomal dominant and X-linked lethal multiple pterygium syndromes have also been reported in the literature. We aimed to discuss the swallowing physiology of a case who referred with swallowing disorders. Our case was 20 months old, male, 75 cm height and 10.5 kg weight and he fed by oral way. He was followed by 2.5 months with tracheostomy tube. He had pulmonary infection history once a month. Swallowing disorder was thought to be the cause of pulmonary infection so the swallowing evaluation was performed. Modified Barium Swallowing Evaluation was performed and the penetration aspiration scale (PAS) was used to define the aspiration severity. Delay in swallowing reflex (2–5 s) was determined. Silent aspiration was seen in liquid consistency with bottle feeding. The PAS score was 7. Oral intake with liquid thickener was recommended because swallowing evaluation showed that the cause of infections was liquid aspiration. Our results showed that swallowing disabilities should also be considered in this syndrome characterized by multiple congenital anomalies and necessary referral should be done in the early period. Escobar syndrome is a rare disease characterized by multiple ptergia, skin webs and congenital anomalies like craniofacial defects, vertebral anomalies, cleft palate, kyphosis and scoliosis. Despite the passage of the disease is reported as an autosomal recessive, autosomal dominant and X-linked lethal multiple pterygium syndromes have also been reported in the literature. We aimed to discuss the swallowing physiology of a case who referred with swallowing disorders. Our case was 20 months old, male, 75 cm height and 10.5 kg weight and he fed by oral way. He was followed by 2.5 months with tracheostomy tube. He had pulmonary infection history once a month. Swallowing disorder was thought to be the cause of pulmonary infection so the swallowing evaluation was performed. Modified Barium Swallowing Evaluation was performed and the penetration aspiration scale (PAS) was used to define the aspiration severity. Delay in swallowing reflex (2–5 s) was determined. Silent aspiration was seen in liquid consistency with bottle feeding. The PAS score was 7. Oral intake with liquid thickener was recommended because swallowing evaluation showed that the cause of infections was liquid aspiration. Our results showed that swallowing disabilities should also be considered in this syndrome characterized by multiple congenital anomalies and necessary referral should be done in the early period." @default.
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• W2331189495 date "2013-10-01" @default.
• W2331189495 modified "2023-10-18" @default.
• W2331189495 title "P.12.7 Swallowing evaluation in Escobar syndrome : A case report" @default.
• W2331189495 doi "https://doi.org/10.1016/j.nmd.2013.06.589" @default.
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