[The De Barsy syndrome].
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.
Hoekx
J
J
Afd. Kindergeneeskunde, Academisch Ziekenhuis Nijmegen.
Smeitink
J
J
Brunner
H
H
Monnens
L
L
D001264:Athetosis / Q000150:complications; D003318:Corneal Opacity / Q000150:complications*; D003483:Cutis Laxa / Q000150:complications*; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D013577:Syndrome
Het syndroom van De Barsy.