The de Barsy syndrome

Arazi M., Kapicioǧlu M. İ. S., Mutlu M.

Turkish Journal of Pediatrics, vol.43, no.1, pp.79-84, 2001 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 1
  • Publication Date: 2001
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.79-84
  • Keywords: Children, Cutis laxa, De Barsy syndrome, Elastin, Hypermobility
  • Ankara Yıldırım Beyazıt University Affiliated: No

Abstract

We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typical findings of this case with eight-year follow-up beginning from birth are described and compared with previously reported cases. The main aim of this paper was to describe the diagnostic and therapeutic difficulties of this rarely encountered syndrome.