Year : 2006 | Volume
: 16 | Issue : 4 | Page : 947--948
Radiological quiz - musculoskeletal
NU Bahri, HP Parekh, SL Chudashama, MH Patel, S Agarwal, SA Jayesh
Department of Radiology, Jamnagar - 361 008, Gujarat, India
H P Parekh
D-6/A Medical Campus, M. P. Shah Medical College, Jamnagar 361 008
|How to cite this article:|
Bahri N U, Parekh H P, Chudashama S L, Patel M H, Agarwal S, Jayesh S A. Radiological quiz - musculoskeletal.Indian J Radiol Imaging 2006;16:947-948
|How to cite this URL:|
Bahri N U, Parekh H P, Chudashama S L, Patel M H, Agarwal S, Jayesh S A. Radiological quiz - musculoskeletal. Indian J Radiol Imaging [serial online] 2006 [cited 2020 Aug 14 ];16:947-948
Available from: http://www.ijri.org/text.asp?2006/16/4/947/32395
A 30 year old female presented with history of 6 month amenorrhoea. Antenatal sonography was performed as routine screening.
On antenatal ultrasonography there was compression effect on skull vault on applying pressure by probe[Figure 1]. Fracture of femur and humerus were also noted [Figure 2][Figure 3]. Rest of bones appears normal. Thoracic cage, abdominal viscera and spine appear normal. Patient was refered to respected department.
View AnswerOSTEOGENESIS IMPERFECTA
It is heterogenous group of inherited disorder due to defective maturation of collagen leading to micromelic dwarfism, characterized by triad of osteoporosis with bone fragility, blue sclera and dentinogenesis imperfecta . It is due to quantitative and qualitative defect in synthesis of collagen type I, most serious involvement is in the skeleton but ligaments, sclera, skin, inner ear and dentine also affected .
Osteogenesis imperfecta is a heterogenous disorder involving defective collagen formation. It is due to abnormal maturation of collagen affecting both intramembranous and enchondral bone. Primitive fetal collagen and bone are not replaced with mature lamellar and woven bone leading to bone fragility . Two main clinical types  Osteogenesis imperfecta congenita, it is most lethal form.  Osteogenesis imperfecta tarda, it is mild form, compatible to life . Another classification is type I to IV.
(1) Osteogenesis imperfecta type I
Most common type occurring in approximately 1 in 28,500 birth. Since it transmitted as autosomal dominant pattern, family history of affected parent is present. Patient present at the age of 2-6 years with clinical signs of blue sclera, deafness and presence or absence of dentinogenesis imperfecta and normal weight and length  On USG findings there is bowing of long bones and occasional fractures of long bones is present.
(2) Type II
It account for majority of cases detected during prenatal sonography it is most lethal form. It is subdivided into type IIA, IIB, IIC. Classical USG features of type IIA is severe micromelia with deformity. Sharp angulation or bowing and apparent thicknening of limb bones due to numerous fractures with exuberant callus formation. Diffuse hypomineralization is characterized by decreased echogenicity of skeletal structures. It permits abnormally clear visualization of brain through skull vault. Skull vault is abnormally compressible. Multiple rib fractures with collapse of thoracic cage is present. Associated finding are polyhydroamnios and hydrops, fetus is small for date. US findings in type IIB is shortening and bowing of femurs with numerous fractures. Bone echogenicity is normal . US finding in type IIC is shortening with fractures of all limbs with normal echogenicity of bone .
(3) Type III
It is a severe, progressively deforming form, transmitted as autosomal recessive pattern, characterized by blue sclera, joint laxity, decreased bone ossification, short and bowed long bones. USG findings is short, bowed long bones with numerous fractures with decreased bone echogenicity .
(4) Type IV
It is mild form with best prognosis, transmitted as an autosomal dominant pattern and characterized by normal sclera, little tendency to deafness and normal length of long bone with mild bowing of femurs. USG findings is it has not been detected antenatally but finding similar to type I as mild bowing of long bones . Associated findings in skull and axial skeletal found on plain x-rays are women bones, enlarged paranasal sinuses, platybasia, basillar invagination, severe kyphoscoliosis, biconcave / wedge shape vertebral bodies, triradiate pelvis and protrusio acetabuli .
Differential Diagnosis of Osteogenesis imperfecta is thanatophoric dysplasia, achondroplasia, hypophosphatasia. In thanatophoric dysplasia, there is severe micromelia. Femurs are extremely short, thickened, bowed and appear like telephone receiver handles. Small thorax and clover leaf skull is present. In achondroplasia, there is severe micromelia with large head and small trunk is present. Undermineralized skull and small thorax is present. In Hypophosphatasia, there is undermineralization of bone. It is a severe lethal form.
Diagnosis is made by measuring cellular alkaline phosphatase activity in chorionic villous cells .
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