[The De Barsy syndrome].

Abstract

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.

• Authors: J Hoekx, J Smeitink, H Brunner, L Monnens
• Journal: Tijdschrift voor kindergeneeskunde (Tijdschr Kindergeneeskd) Vol. 57 Issue 2 Pg. 53-7 (Apr 1989) ISSN: 0376-7442 [Print] Netherlands
• Vernacular Title: Het syndroom van De Barsy.
• PMID: 2741159 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Athetosis (complications)
• Corneal Opacity (complications)
• Cutis Laxa (complications)
• Growth Disorders (complications)
• Humans
• Infant, Newborn
• Intellectual Disability (complications)
• Male
• Syndrome