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De Barsy syndrome in an extreme preterm infant

Heba AL-SAGBAN, Hakam YASEEN, Mona KHALAF, Hiba YASEEN
2.939 795

Abstract


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.

Keywords


De Barsy syndrome, Cutis laxa, Progeroid syndromes

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