De Barsy syndrome in an extreme preterm infant

Yıl 2011, Cilt: 3 Sayı: 3, 1 - 4, 30.07.2011

Heba Al-sagban Hakam Yaseen Mona Khalaf Hiba Yaseen

Öz

We report a rare case of an extreme preterm infant with De Barsy syndrome characterized by severe mental retardation, cutis laxa, cloudy corneas, muscular hypotonia, and lax joints. The etiology of this syndrome is unknown but it is probably heterogeneous. Recently a autosomal recessive glycosylation disorder (ATP6V0A2-CDG) has been associated with De Barsy syndrome.

Anahtar Kelimeler

De Barsy syndrome, Cutis laxa, Progeroid syndromes

Kaynakça

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