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The de Barsy syndrome

Arazi, M.; Kapicioğlu, M.I.; Mutlu, M.

Turkish Journal of Pediatrics 43(1): 79-84

2001

ISSN/ISBN: 0041-4301
PMID: 11297166
Document Number: 528626
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.

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