Nurettin ÜNAL, Mustafa KÖSECİK, Sağın Gül SAYLAM, Özlem GİRAY, Mustafa KIR, Şebnem PAYTONCU, Soner KUMTEPE, Adnan AKÇORAL, Derya ERÇAL

İzole periferik pulmoner arter darlığı ile birlikte olan Williams sendromlu bir olgu

Williams sendromu tipik yüz görünümü, kardiyovaskuler anomaliler, özellikle supravalvar aort darlığı ve mental retardasyonla karekterizedir. Sendromda periferik pulmoner alter darlıkları tek başına nadir görülen kardiyovasküler anomalidir. Bu makalede tipik yüz görünümü, bilateral multipl periferik pulmoner arter darlıkları olan ve moleküler sitogenetik incelemesinde 7q 11'de elastin gen delesyon varlığı gösterilen Williams sendromlu on sekiz aylık bir erkek olgu sunuldu.

Anahtar Kelimeler:

Pulmoner kapak darlığı, Çocuk, Elastin, Erkek, Williams sendromu

A case with Williams syndrome associated with isolated peripheral pulmonary stenosis

Williams syndrome is characterized by typical facies, cardiovascular anomalies, supravalvular aortic stenosis being the most common, and mental retardation. Peripheral pulmonary artery stenoses as the sole cardiovascular anomaly are very rare. In this report, we present an eighteen-month-old boy with Williams syndrome who has typical facies, bilateraly peripheral pulmonary artery stenoses and elastin gene deletion on 7q 11 with molecular cytogenetics.

Keywords:

Pulmonary Valve Stenosis, Child, Elastin, Male, Williams Syndrome,

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