Ramachandran SUDARSHAN, Rajeshwari G. ANNIGERI, G. Sree VIJAYABALA

Kuş Kafalı Cücelik (Seckel Sendromu) – nadir bir olgunun sunumu

ISSN: 1303-734X
Yayın Aralığı: 8
Başlangıç: 2002
Yayıncı: Gülhane Askeri Tıp Akademisi Halk Sağlığı AD.

Seckel Sendromu, tipik kuş yüzü görünümü, büyüme geriliği, mikrosefali, zekâ geriliği, değişken kromozom instabilitesi ve hematolojik problemler görülen nadir otozomal resesif bir bozukluktur. Biz anemi ile beraber seyreden Seckel Sendromuna benzer klinik bulguları olan 16 yaşında bir kız hastayı rapor ettik.

Bird-Headed Dwarfism (Seckel Syndrome) – A rare case report

Seckel syndrome is a rare autosomal recessive disorder with a typical bird face appearance, growth retardation, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders. We report a case of 16 years old girl with clinical features resembling seckel syndrome along with anaemia.

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