The de Barsy syndrome
Turkish Journal of Pediatrics, cilt.43, sa.1, ss.79-84, 2001 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 43 Sayı: 1
- Basım Tarihi: 2001
- Dergi Adı: Turkish Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.79-84
- Anahtar Kelimeler: Children, Cutis laxa, De Barsy syndrome, Elastin, Hypermobility
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
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.