The de Barsy syndrome
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...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2001-01-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3023 |
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| _version_ | 1850033514459693056 |
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| author | M Arazi M I Kapicioğlu M Mutlu |
| author_facet | M Arazi M I Kapicioğlu M Mutlu |
| author_sort | M Arazi |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-e889957ed3cc4c7dbf720e067466a311 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2001-01-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-e889957ed3cc4c7dbf720e067466a3112025-08-20T02:58:11ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212001-01-01431The de Barsy syndromeM Arazi0M I KapicioğluM MutluDepartment of Orthopedic Surgery and Traumatology, Selçuk University Faculty of Medicine, Konya, Turkey. 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. https://turkjpediatr.org/article/view/3023 |
| spellingShingle | M Arazi M I Kapicioğlu M Mutlu The de Barsy syndrome The Turkish Journal of Pediatrics |
| title | The de Barsy syndrome |
| title_full | The de Barsy syndrome |
| title_fullStr | The de Barsy syndrome |
| title_full_unstemmed | The de Barsy syndrome |
| title_short | The de Barsy syndrome |
| title_sort | de barsy syndrome |
| url | https://turkjpediatr.org/article/view/3023 |
| work_keys_str_mv | AT marazi thedebarsysyndrome AT mikapicioglu thedebarsysyndrome AT mmutlu thedebarsysyndrome AT marazi debarsysyndrome AT mikapicioglu debarsysyndrome AT mmutlu debarsysyndrome |