| Title | The de Barsy syndrome. | | Author(s) | Arazi M, Kapicioğlu MI, Mutlu M | | Institution | Department of Orthopedic Surgery and Traumatology, Selçuk University Faculty of Medicine, Konya, Turkey. | | Source | Turk J Pediatr 2001 Jan-Mar; 43(1):79-84. | | MeSH | Abnormalities, Multiple
Cutis Laxa
Diagnosis, Differential
Face
Female
Humans
Infant
Muscle Hypotonia
Musculoskeletal Diseases
Progeria
Syndrome
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 11297166 |
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