Type I osteogenesis imperfecta: Diagnostic difficulties

被引：7

作者：

Bischoff, H ^{[1
]}

Freitag, P ^{[1
]}

Jundt, G ^{[1
]}

Steinmann, B ^{[1
]}

Tyndall, A ^{[1
]}

Theiler, R ^{[1
]}

机构：

[1] Univ Basel Hosp, Dept Rheumatol, CH-4031 Basel, Switzerland

来源：

CLINICAL RHEUMATOLOGY | 1999年 / 18卷 / 01期

关键词：

diagnosis in osteoporosis; osteogenesis imperfecta; osteoporosis;

D O I：

10.1007/s100670050052

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 65-year-old woman presented with vertebral fractures of the lumbar spine and a history of pathological fractures following minor trauma, which had occurred before the onset of menopause. Her past medical history was significant for intermittent low back pain since childhood, which was attributed to thoracolumbar scoliosis. A diagnosis of unclassifiable osteoporosis was made until invasive diagnostic procedures suggested a mild form of type I osteogenesis imperfecta (OI). In unclear or atypical perimenopausal osteoporosis and diagnosis of OI should be considered.

引用

页码：48 / 51

页数：4

共 16 条

[1] Long-term effects of bisphosphonates on the growing skeleton - Studies of young patients with severe osteoporosis [J].

Brumsen, C ;

Hamdy, NAT ;

Papapoulos, SE .

MEDICINE, 1997, 76 (04) :266-283

[2] OSTEOGENESIS IMPERFECTA - TRANSLATION OF MUTATION TO PHENOTYPE [J].

BYERS, PH ;

WALLIS, GA ;

WILLING, MC .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (07) :433-442

[3]

BYERS PH, 1981, BIRTH DEFECTS-ORIG, V17, P147

[4] BONE-MINERAL CONTENT AND DENSITY IN HEALTHY-SUBJECTS AND IN OSTEOGENESIS IMPERFECTA [J].

DAVIE, MWJ ;

HADDAWAY, MJ .

ARCHIVES OF DISEASE IN CHILDHOOD, 1994, 70 (04) :331-334

[5] STUDIES OF TYPE-I COLLAGEN IN OSTEOGENESIS IMPERFECTA [J].

EDWARDS, MJ ;

GRAHAM, JM .

JOURNAL OF PEDIATRICS, 1990, 117 (01) :67-72

[6]

FERREIRA BR, 1991, REV LARYNGOL OTOL RH, V112, P3

[7]

GUIBAUD P, 1990, PEDIATRIE, V45, P839

[8] AN RT-PCR-SSCP SCREENING STRATEGY FOR DETECTION OF MUTATIONS IN THE GENE ENCODING THE ALPHA-1 CHAIN OF TYPE-1 COLLAGEN - APPLICATION TO 4 PATIENTS WITH OSTEOGENESIS IMPERFECTA [J].

MACKAY, K ;

BYERS, PH ;

DALGLEISH, R .

HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1155-1160

[9] EFFECT OF LONG-TERM CALCITONIN THERAPY BY INJECTION AND NASAL SPRAY ON THE INCIDENCE OF FRACTURES IN OSTEOGENESIS IMPERFECTA [J].

NISHI, Y ;

HAMAMOTO, K ;

KAJIYAMA, M ;

ONO, H ;

KIHARA, M ;

JINNO, K .

JOURNAL OF PEDIATRICS, 1992, 121 (03) :477-480

[10] BONE-DENSITY IN OSTEOGENESIS IMPERFECTA MAY WELL BE NORMAL [J].

PATERSON, CR ;

MOLE, PA .

POSTGRADUATE MEDICAL JOURNAL, 1994, 70 (820) :104-107

← 1 2 →