Osteogenesis imperfecta associated with partial trisomy 20p: Case report Osteogenezis İmperfekta ile Parsiyel Trizomi 20p Birlikteliği: Olgu Sunumu
Goztepe Tip Dergisi, cilt.29, sa.3, ss.192-195, 2014 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 29 Sayı: 3
- Basım Tarihi: 2014
- Doi Numarası: 10.5222/j.goztepetrh.2014.192
- Dergi Adı: Goztepe Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.192-195
- Anahtar Kelimeler: Mental retardation, Osteogenesis imperfecta, Partial trisomy 20p
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Osteogenesis imperfecta (OI), a secondary cause of osteoporosis, principally manifests as bone fragility. It is an inherited disorder of connective tissue integrity, and affects up to one in 10 000 persons. Diagnosis of moderate OI is challenging due to its variable phenotypic expression and inconsistent course. Here we report a patient suffering from OI showing a moderate form of increased bone fragility and skeletal deformities, mental retardation and partial trisomy 20p.