Osteogenesis Imperfecta Radiographic Findings Andrea Price Diagnostic Radiology July 5, 2013

Patient Summary OSH Pre-Natal structural survey revealed skeletal dysplasia and numerous bilateral fractures. Polyhydramnios developed at 32 weeks g infant born by c-section on 4/27/2013 at 35 weeks, 3 days (late preterm). APGARs were 6 (1 min) and 7 (5 min). Infant demonstrating difficult respiration, retractions noted. Infant placed on Positive Pressure Ventilation and transferred to NICU

Patient Summary Of note, the infant’s maternal aunt has two children with diagnosed Osteogenesis Imperfecta. One is deceased (age 4 mo), the other is living (age 4 yr).

Patient Summary Taken together, these findings are consistent with a case of Osteogenesis Imperfecta

Osteogenesis Imperfecta Osteogenesis Imperfecta is a congenital, non-sex-linked disorder of type I collagen production. It is most commonly inherited in an autosomal dominant pattern, although spontaneous mutations and rare autosomal recessive cases do also occur. In general, four major clinical features characterize OI – Osteoporosis with abnormal bone fragility – Blue Sclera – Dentinogenesis Imperfecta – Hearing Impairment

Pre-Natal Sonographic Findings Consistent with OI – Evidence of Fractures Long bones may appear shortened and/or angulated – Decreased Calvarial Ossification The skull may deform/compress with transducer pressure – Polyhydramnios OI can be visualized by ultrasound between weeks

Pre-Natal Sonographic Findings Axial scan of fetal head, demonstrating poor ossification of the skull and easy compression of the calvarium Hale, A., et al. “Osteogenesis Imperfecta.” Case Study from University of New Mexico School of Medicine, published online

Pre-Natal Sonographic Findings Narrow thorax with numerous rib fractures Dudarewicz, L., et al. “Osteogenesis Imperfecta.” Case Study from Polish Mother’s Memorial Hospital, published online

X-Ray Findings Consistent with OI Head, Neck & Spine: – Basilar Invagination – craniocervical junction abnormality in which the cervical spine is displaced upwards into the foramen magnum – Wormian Bones – irregular bone pieces that occur within sutures of the cranium – Kyphoscoliosis – Vertebral Compression Fractures Chest – Pectus Excavatum (concave depression in the sternum) or Pectus Carinatum (anterior projection of the sternum, “pigeon chest”) Pelvis – Acetabular Protrusion – intrapelvic displacement of the medial wall of the acetabulum (femoral head medial to Kohler’s Ilioischial line is positive radiographic finding) General – Severe Osteoporosis – Cortical Thinning – Bowing of the Long Bones – Hyperplastic Callus Formation – Popcorn Calcification – irregular lucencies with sclerotic margins in the metaphyses and epiphyses of long bones of OI patients

Radiographic Findings of OI Pediatric frontal view X-Ray of upper extremities demonstrating healing fractures of the proximal ulna and radius with hyperplastic callus formation X-ray also demonstrates long bone bowing and angulation.

Radiographic Findings of OI X-Ray demonstrating anteromedial bowing of the tibia, and to a lesser degree, of the fibula Increased bone lucency AP Lat

Age: 1 day MRN# “Babygram”

Age: 1 day Umbilical Vein Catheter Umbilical Artery Catheter NG Tube MRN# First, identify support tubes and lines

Age: 1 day MRN# Next, survey visualized bony structures Bilateral femur fractures Bilateral humerus fractures Numerous rib fractures Severe deformity of numerous long bones *also note incomplete ossification of skeleton (normal)

Age: 1 day MRN# Next, evaluate soft tissues and abdominal and thoracic contents

64 days old MRN# X-ray of chest and abdomen

MRN# Age: 64 days ECG leads Gastrostomy Port First, identify support tubes and lines

Bilateral humerus fractures Bilateral femur fractures MRN# Age: 64 days Numerous rib fractures Next, survey visualized bony structures *callus formation

MRN# Age: 64 days Next, evaluate contents of abdomen and thorax

Summary Taken together, this patient’s family history, clinical presentation and radiographic findings are consistent with a diagnosis of Osteogenesis Imperfecta A definitive diagnosis can be confirmed through genetic testing

References Greenspan A. Orthopedic Imaging, a Practical Approach. Lippincott Williams & Wilkins. October 15, ISBN Berge, L., et al. “Prenatal Diagnosis of Osteogenesis Imperfecta.” Acta Obstet Gynecol Scand Apr;74(4): Bulas, D., et al. “Variable Prenatal Appearance of Osteogenesis Imperfecta.” J Ultrasound Med Jun;13(6): McBride, M., et al. "Protrusio acetabuli: diagnosis and treatment". J Am Acad Orthop Surg 2001;9 (2): 79– Hale, A., et al. “Osteogenesis Imperfecta.” Case Study from University of New Mexico School of Medicine, published online Dudarewicz, L., et al. “Osteogenesis Imperfecta.” Case Study from Polish Mother’s Memorial Hospital, published online