Bir olgu ile Wolf-Hirschhorn sendromu

Wolf-Hirschhorn sendromu (WHS), 4. kromozomun kýsa kolunun distal kýsmýnda delesyon (4p-) sonucu oluþan, psikomotor geriliðe genellikle prenatal ve postnatal büyüme geriliðinin eþlik ettiði, aðýr mental retardasyon, tipik yüz anomalileri, orta hat defektleri, iskelet anomalileri, hipotoni ve nöbet varlýðý ile karakterize nadir görülen bir genetik hastalýktýr. Burada, intrauterin büyüme geriliði, atipik yüz görünümü, nöbet ve anormal elektroensefalografi bulgularý olan karyotip analizi ile kesin taný alan 16 aylýk WHS’li bir kýz olgu sunulmaktadýr.

A case with Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is a rare well-known genetic condition resulting from a distal deletion of the short arm of chromosome 4, is usually associated with marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, typical facial anomalies, midline defects, skeletal anomalies, hypotonia and seizures. We herein report a 16-month-old girl with severe intrauterin-growth-retardation, atypical facial anomalies, seizures and abnormal electroencephalography that was diagnosed with karyotype analysis.