Hoekx J, Smeitink J, Brunner H, Monnens L [The De Barsy syndrome] [Case Reports, Journal Article] Tijdschr Kindergeneeskd 1989 Apr; 57(2):53-7.
De Barsy syndrome is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, growth retardation, mental retardation and athetoid movements. The clinical symptoms of a male infant are described and compared with all other cases reported in literature. The aetiology of this syndrome is unclear; inheritance is probably autosomal recessive.
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