1. Budapest, Hungary - September 17-19, 2015
The 22nd World Congress on Controversies in Obstetrics, Gynecology & Infertility (COGI)
The importance of a good medical history and a clinical examination as a precondition for the diagnosis of a rare disease
Emina Ejubovic, MD
Bosnia & Herzegovina
Budapest, Hungary - September 17-19, 2015

2. INTRODUCTION
Osteogenesis imperfecta (Lobstein syndrome) - congenital bone disorder characterized with brittle bones that are prone to fracture
People with this disease are born with the connective tissue disorder; most common is a deficit of type 1 collagen
Most cases of Osteogenesis imperfecta are inherited as an autosomal dominant disease; the majority of patients with type I and IV inherited the mutation from a parent who has the disorder; the majority of newborns with severe forms of the disease (type II and III) have sporadic mutations in COL1A1 and COL1A2 genes
Less commonly OI is inherited as an autosomal recessive disorder (some cases of type III disease)
Diagnosis - based on a medical and family history and a clinical presentation, hence final diagnosis is based on laboratory testing (DNA-based sequencing of mutations) and skin biopsy

3. CASE REPORT
A 24-year old gravid woman (fourth pregnancy) was admitted to the Cantonal Hospital Zenica (Department of Gynecology and Obstetrics) with excessive vaginal bleeding, severe muscular defans and absence of fetal movements (suspected placental abruption)
Emergency blood count - Leu-21,0, RBC-2,66, Hgb-4,9, Hct-0,16, MCV-59,1, MCH-18,6, MCHC-31,4, RDW-17,0, PLT-208, RBC antibodies present
Emergency ultrasound examination - absence of fetal cardiac activity and the presence of retroplacentar hematoma with 15 cm diameter
Physical examination - shorter growth, alopecia, expressed external occipital protuberance, bluish sclera, specific teeth shape, deformities of the fifth fingers on both hands and hypermobility of both knees and hand joints
Personal and family history - lifetime problems with weak and soft bones, bone surgery at the age of 3; prior pregnancy ultrasound at 28 gestation weeks - femur lenght (FL) was 3 weeks shorter comparing to biparietal diameter (BPD)
Patient’s father, one sister and her two daughters have similar bone problems
Patient's sister also has deformities of the fifth fingers on both hands and feet, hypermobility of both knees and hand joints, syndactyly of the second and third finger on both feet, specific teeth shape and bluish sclera

4. Picture 1. Expressed external occipital protuberance
Picture 3. Finger deformities
Picture 4. Hypermobility of the knee joint
Picture 2. Bluish sclera

5. CONCLUSION
Due to a specific clinical presentation and personal and family history, a hereditary disease of collagen - Osteogenesis imperfecta (OI) was assumed to be a patient’s diagnosis
A history of identical bone problems through three generations, suggests a hereditary disease of collagen (one of the most common disorders is OI)
American Osteogenesis Imperfecta Foundation (OIF) – disease can be often, though not always, diagnosed based solely on clinical features 1
The aim of this case - the importance of the clinical examination and a good medical history, especially family history, when there is suspicion of a hereditary disease
For the final diagnosis, the X-ray diagnosis, a skin biopsy and a DNA tests are required 1

6. THANK YOU