The clinical features of osteogenesis imperfecta in Vietnam.
Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in Vietnam for future research and treatment strategy development.



Participants underwent clinical and physical examinations; also medical records were reviewed. Genealogical information was collected and family members' phenotypical manifestations recorded. Cases were classified according to the Sillence classification.



In total, 146 OI patients from 120 families were studied: 46 with OI Type I, 46 with Type III and 54 with Type IV. Almost patients had skeletal deformations. One hundred and forty-two had a history of fractures, 117 blue sclera, 89 dentinogenesis imperfecta and 26 hearing loss. The total number of fractures was 1,932. Thirty-four patients had intra-uterine fractures and nine had perinatal fractures. Surgery was performed 163 times in 58 patients; 100 osteosyntheses and 63 osteotomies. Bisphosphonate treatment was used in 37 patients. The number of affected individuals and predominance of severe forms of OI indicate that the disease is under diagnosed in Vietnam, especially in cases without a family history or with mild form of OI. Deformities appeared in all patients with different severity and localisation, affecting mostly the lower limbs. OI medical and surgical treatment rates are low and in most cases surgery was performed due to fractures.



Compared to previous studies, our results indicate a lower OI prevalence and greater severity of symptoms in the Vietnamese population when compared with other areas. Further investigation, improved diagnosis and treatment are needed to increase the patients' quality of life.
Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam. binhthuybi@yahoo.com.|Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com.|Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com.
Ho Duy
HD
Binh
Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.|Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia.
Katre
K
Maasalu
National Hospital of Pediatrics, 18/879 La Thanh, Dong Da, 100000, Hanoi, Vietnam.
Vu Chi
VC
Dung
National Hospital of Pediatrics, 18/879 La Thanh, Dong Da, 100000, Hanoi, Vietnam.
Can T Bich
CT
Ngoc
OI Booming Diamond Center, 303/38 Ha Huy Giap, 12th District, 700000, Ho Chi Minh City, Vietnam.
Ton That
TT
Hung
Traditional Medicine Institute, 273 Nguyen Van Troi, Phu Nhuan, 700000, Ho Chi Minh City, Vietnam.
Tran V
TV
Nam
Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam.
Le N Thanh
LN
Nhan
Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia.
Ele
E
Prans
Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia.
Ene
E
Reimann
Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.
Lidiia
L
Zhytnik
Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia.
Sulev
S
Kõks
Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.|Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia.
Aare
A
Märtson
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D050723:Fractures, Bone / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology; D015995:Prevalence; D011788:Quality of Life; D014744:Vietnam; D055815:Young Adult
Bone fractures; Dentinogenesis imperfecta; OI; Osteogenesis imperfecta; Skeletal deformations; Vietnam