BONY DYSPLASIA

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BONY DYSPLASIA : 

BONY DYSPLASIA Presented by:- DR NAVEEN GURJAR PG RESIDENT DEPT OF RADIO-DIAGNOSIS MAHATMA GANDHI MEDICAL COLLEGE & HOSPITAL

DYSPLASIAS OF BONE : 

DYSPLASIAS OF BONE CLEIDOCRANIAL DYSPLASIA PYKNODYSOSTOSIS. ACRO-OSTEOLYSIS. OSTEOGENESIS IMPERFECTA. FIBROGENESIS IMPERFECTA OSSIUM OSTEOPETROSIS. MELORHEOSTOSIS. OSTEOPOIKYLOSIS. OSTEOPATHIA STRIATA. FIBROUS DYSPLASIA CHONDRODYSTROPHIA CALCIFICANS CONGENITA. MULTIPLE EPIPHYSEAL DYSPLASIA. DYSPLASIA EPIPHYSEALIS HEMIMELICA. METAPHYSEAL CHONDRODYSPLASIA. DIAPHYSEAL ACLASIS.

DYSPLASIAS OF BONE : 

DYSPLASIAS OF BONE ACHONDROPLASIA. HYPOCHONDROPLASIA. PSEUDOACHONDROPLASIA. THANATOPHORIC DWARFISM. ASPHYXIATING THORACIC DYSTROPHY. CHONDROECTODERMAL DYSPLASIA. DYSCHONDROSTEOSIS THE MUCOPOLYSACCHARIDOSES AND MUCOLIPIDOSES. • MPS I-H (Hurler's syndrome; gargoylism) • MPS II (Hunter's syndrome) • MPS III (Sanfilippo's syndrome) • MPS IV (Morquio-Brailsford syndrome) • MPS I-S (Scheie's syndrome) • MPS VI (Maroteaux-Lamy syndrome).

DYSPLASIAS OF BONE : 

DYSPLASIAS OF BONE SPONDYLOEPIPHYSEAL DYSPLASIA. HYPOPHOSPHATASIA. ARACHNODACTYLY. HOMOCYSTINURIA. ACHONDROGENESIS. FIBRODYSPLASIA OSSIFICANS PROGRESSIVA.

CLEIDOCRANIAL DYSPLASIA : 

CLEIDOCRANIAL DYSPLASIA Benign heredity condition. Inherited/ autosomal dominant. 30% cases of spontaneous mutation. Radiographic features Absence of clavicle partial or total Thorax is narrow, ribs are short and directed obliquely downward. Enlarge cranium. Spina bifida occulta and spondylolysis. Narrowing of pelvis, congenital coxa vera. The 2nd & 5th metacarpal are long & have supernumerary ossification center at their base. The middle phalanges of the 2nd &5th are short. Short fibulae, congenital pseudarthrosis of the femur, genu valgum

CLEIDOCRANIAL DYSPLASIA : 

CLEIDOCRANIAL DYSPLASIA Clavicular defects are demonstrated, especially on the right side. (B) Note delayed mineralisation in the fronto parietal region and wormian bones posteriorly. Facial bones are small but the mandible is normal.

PYKNODYSOSTOSIS : 

PYKNODYSOSTOSIS Inherited autosomal recessive dieases The patient are short(below 150cm). The skull shows failure of sutural fusion and sclerosis of the base. The angle of the mandible is obtuse and the maxilla hypoplastic. Hypoplasia of the lateral ends of the clavicles , ribs are dense overall. Failure of fusion of the neural arches & spondylolisthesis is seen . Acro-osteolysis occur.

Slide 9: 

Acro-osteolysis It means disintegration of bone of the tips of the fingers & toes. Inherited & autosomal dominant Other features are spinal osteoporosis and wormian bones in children. Fibrogenesis imperfecta ossium This is a rare condition which affects elderly patients and usually presents with pathological fractures. Radiologically, a gross coarsening of trabeculae is present so that the disease looks like Paget's disease . All the bones are affected except the skull. Unlike Paget's disease, the bones retain their usual contour. Osteopoikylosis. The lesions are familial. It affects both sexes equally. characterised by the presence of multiple, dense, radiopaque spots which are round, oval or lanceolate, and tend to he situated parallel to the axis of the affected bone. They are usually uniform in density but may have relatively clear central zones. Any bone may be affected They occur especially frequently in the ends of long hones and around joints, in the carpus and tarsus, and in the pelvis Osteopathia striata In this disorder sclerotic striations are found in the long bones, especially of the lower limbs, affecting both bone ends and diaphyses Also known as voorhoeve’s dieases.

Slide 10: 

Osteopoikylosis. Osteopathia striata

OSTEOGENESIS IMPERFECTA : 

OSTEOGENESIS IMPERFECTA It is a disorder manifested by increased fragility of bones and osteoporosis with dental abnormalities. This disorder is due to the abnormality of type 1 collagen. Sillence et al 1979 classify in four types: type 1-autosomal dominant inheritance type 2-spontaneous dominant new mutation type 3-sever & progressively deforming type type 4-dental with dentino genesis imperfecta

type 1 : 

type 1 Type 1a-normal teeth, minor skeletal changes Type 1b- dentinogenesis imperfecta Sclera is blue, Bone fragility is mild , stature is only mildly reduced. Persistence of wormian bones with basilar invagination There is osteopenia. A fracture lesion has resulted in bowing and a periostitis

Type 2 : 

Type 2 Sclera are dark blue. Bones are grossly demineralised, with thin cortices. Type 2a-long bones are bowed, short & broad. numerous fracture are seen. ribs are broad with continuous beading. Type 2b-the rib show less or no beading. Type 2c-long bones are thinned. show numerous fractures the rib too are thin & beaded. Multiple fractures are demonstrated in the short and broad long bones, which are cystic in appearance with multiple rib fracture.

Type 3 : 

Type 3 Over all bones are demineralised. Vertebral compression & kyphoscoliosis. Long bones are osteoporotic & thin. Skull :- ossification is poor, sutures are wide & wormian bones persist. The femur is expanded and bowed at the site of previous fractures. The mid shaft has a cystic, or soap-bubble, appearance

Type 4 : 

Type 4 Type 4a-no dental lesion Type 4b-dentinogenesis imperfecta Sclera normal. Bone fragility is mild.

Osteopetrosis (marble bones) : 

Osteopetrosis (marble bones) A sever, fatal, early form manifest in infancy. Type 1-marked thickening of the sclerotic skull vault with normal spine. Type 2-a sclerotic skull base & a rugger jersey spine with high risk of fracture. Histology –failure of resorption of the primary primitive fetal spongiosa by vascular mesenchyme. This primitive bone has a higher calcium content on ashing & appears denser on radiology. The bone is brittle & fractures easily, but heal normally. Bone density is uniformly increased apart from a small curved zone of normal bone at the iliac crest metaphysis

Osteopetrosis : 

Osteopetrosis Fine vertical lucencies are seen extending to the metaphyses, together with a ’bone within a bone’ appearance at the tibial & fibular diaphyses Osteopetrosis-spontaneous fracture of upper end of right femur. Osteopetrosis-note inset of an earlier vertebra within each vertebral body.

Melorheostosis : 

Melorheostosis (A) The plain film shows eccentric and irregular sclerosis along the medial aspect of the distal femur, crossing the joint into the adjacent tibia. There is new bone on the outer aspect of the cortex and also in the soft tissues.(B) The coronal T,-weighted MR sequence shows sclerotic bone, as expected, as areas of low signal lying within the marrow, on the periosteum and in the soft tissues.

CHONDRODYSTROPHIA CALCIFICANS CONGENITA : 

CHONDRODYSTROPHIA CALCIFICANS CONGENITA (A,B) Chondrodystrophia calcificans congenita. There is irregularity of vertebral bodies and of the neural arches and spinous processes in association with soft-tissue stippled calcification. These changes are also seen at the joints. The long bones are markedly shortened. The humeral metaphyses are irregular.

MULTIPLE EPIPHYSEAL DYSPLASIA : 

MULTIPLE EPIPHYSEAL DYSPLASIA Radiographic features Most changes involve epiphysis All of the ossification center are delayed in appearance. There are irregularities in metaphysis but they are minor The epiphysis: Fragmentation and small size The most fragmentation there is in capital femoral epiphysis Avascular necrosis of femoral head superimposed in one-half of patients Knee : flattening of femoral condyle ,valgus , irregular ossification double layer patella Ankle: valgus , changes more occur in the talus than distal tibia Upper extremity : irregularity in proximal and distal humerous and radius, delay ossification of carpal bone

Multiple epiphyseal dysplasia : 

Multiple epiphyseal dysplasia Knee of same patient as in Marked fragmentation of the patella. Angular condyles and flat intercondylar notch Both femoral heads are hypoplastic and fragmented. The femoral necks are irregular and broad

Dysplasia epiphysealis hemimelica : 

Dysplasia epiphysealis hemimelica Irregular growth of part of an epiphysis or epiphyses lying on 1 side of a single limb is seen. Generally unilateral but bilateral lesion are found. The epiphysis is enlarged & an irregularly ossifying cartilage mass further arise on it. Marked overgrowth of the femoral head. it is subluxed laterally. The superior portion resembles a partially calcified cartilaginous tumour.(fig)

diaphyseal aclasis : 

diaphyseal aclasis (A) Initial radiograph taken at 3 months of age shows small metaphyseal spurs. (B) Left humerus at 3.5 years of age. (C) Left knee at 10 years of the same child. This disease is inherited & familial. 60% those affected have involved parent. Sex incidence is equal. Long bones are chiefly affected. Mainly metaphyseal region of shoulders, hips, knees & ankles. which become irregularly expanded & club shaped. Exostoses are seen as small metaphyseal projections in infant joints

ACHONDR0PLASIA : 

ACHONDR0PLASIA Achondroplasia is the most common form of skeletal dysplasia's Incidence: 1 in 30000 to 1 in 50000. Achondroplasia is transmitted as an autosomal dominant but at least 80% of patient with Achondroplasia have the disorder as the result of a spontaneous mutation. The risk of having a child with Achondroplasia increased with increasing paternal age.

Etiology : 

Etiology Mutation in the gene for fibroblast growth factor receptor-3 The mutation is always at the same nucleotid, this is said to be the single most mutable nucleotide in human FGFR3 act on growth plate to regulate linear growth (proliferation zone), and its function is to slow down or inhibit enchondral ossification. The mutation allows over activity of the receptor’s function. Histologically, the growth plate reduced hypertrophic cell zone and large collagen fibrils. Abnormality is failure of enchondral ossification,intramembranous and periosteal ossification are undisturbed

CINICAL FEATURE : 

CINICAL FEATURE Short stature ,disproportionate and rhizomelic Facial appearance : frontal bossing and mid face Hypoplasia The fingertip reach only to the top of the greater trochanters. The digit of the hand have extra space between the 3rd and the 4rd ray so the digit separated into three groups “trident hand Flexion contracture elbow , radial head subluxation Kyphosis at the thoracolumbar junction , increased lumbar lordosis Ligament laxity in knee and ankle Genu varum and internal tibial torsion The joints and its cartilage are normal Intelligence is normal

RADIOGRAPHIC FINDING : 

RADIOGRAPHIC FINDING Skull: the facial bones skull base and foramen magnum are underdeveloped. Cranial bone are normal Spine: central and foraminal stenosis , most commonly in lumbar spine thoracolumbar kyphosis and lumbar lordosis is increased The stenosis is best seen ion CT scan Cervical instability is not usually seen The iliac wings have squared appearance. The metaphyses are flare in appearance Angulation at both the distal femoral and the proximal of tibia the growth of the fibula is greater than contributes to the genu varum Epiphysis is normal and DJD changes are rare

Slide 28: 

Trident hand in Achondroplasia This sagittal T1-weighted MR sequence shows vertebral scalloping as a prominent feature in the lumbar spine. The axial image shows short, broad pedicles and severe associated canal stenosis. Canal stenosis is demonstrated at radiculography Posterior scalloping of vertebral bodies is shown between areas of distal indentation upon the opacified theca.

Hypochondroplasia : 

Hypochondroplasia The skull is never affected, and the patients are either normal or mildly reduced in height. The disease is inherited as a dominant. Radiological features: There is rhizomelia with a short, broad femoral neck The iliac bones arc smaller than normal but not as markedly reduce. The interpedicular distances narrow from LI tol5 and the pedicles are short, so that spinal stenosis results Overgrowth of the distal fibula in Hypochondroplasia

Slide 35: 

This condition is a short limbed dwarfism occurring in both recessive and dominant (A) Tongue-like projections of the vertebral bodies with superior and inferior defects (c) Hands-the radius and ulna are flared at the metaphyses, the carpal bone epiphyses delayed and irregular, and the metacarpals short. The phalanges are stubby and the epiphyses angular and irregular. PSEUDOACHONDROPLASIA (b)Long bones-irregular epiphyses and metaphyses with tilt deformities.

Thanatophoric dwarfism : 

Thanatophoric dwarfism A cloverleaf skull is present. The scapulae are hypoplastic and the clavicles high. Platyspondyly is shown, resulting in H-shaped vertebral bodies. The bones are short & bowed.

Asphyxiating thoracic dystrophy : 

Asphyxiating thoracic dystrophy short horizontal ribs with high clavicles but a normal spine. The scapulae are hypoplastic.

Chondroectodermal dysplasia : 

Chondroectodermal dysplasia Hypoplasia of the lateral portion of the upper tibial epiphysis is present and the metaphysis is dome shaped. Incidental fractures are demonstrated.

Dyschondrosteosis : 

Dyschondrosteosis There is separation of the hypoplastic distal radius and ulna with proximal herniation of the carpus. (B) The lateral view shows the posterior situation of the ulna and hypoplasia of the proximal radius.

Hypophosphatasia : 

Hypophosphatasia (i)low or absent serum alkaline phosphatase. (ii) phosphoethanolamine in the urine and Plasma. (iii) hypercalcaemia in severe forms. In the severe type, gross general failure of ossification of the skeleton is seen.

Arachnodactyly : 

Arachnodactyly This condition is inherited as an autosomal dominant. The long bones are lengthened and muscle weakness ,hyper mobility and lens dislocations are found. Metacarpal index. measuring length of 2nd ,3rd ,4th &5th metacarpal. dividing their breadths taken at exact midpoint resulting figure’s from each 4 metacarpal’s, are added together & divided by 4. normal adult index is 5.4 to 7.9 Arachnodactyly the range is varies 4rm 8.4 to 10.4 elongation of metacarpals and phalanges is demonstrated

Homocystinuria : 

Homocystinuria Absence of the enzyme cystathionine (3-synthase results in an excess of urinary homocystine Osteoporosis in the spine, with posterior scalloping of the vertebral bodies. Epiphyses and carpal bones tend to be enlarged and metaphyses broadened. Osteoporosis is associated with Platyspondyly of the thoracic spine Overgrowth of carpal epiphyses is present

Achondrogenesis : 

Achondrogenesis This is an uncommon lethal form of infantile dysplasia characterised by a large deformed head with gross underdevelopment of the limbs and a large squat abdomen. Gross shortening of the long bones is seen. The metaphyses are irregular and the epiphyses around the knee delayed in appearance. Poor mineralisation of the caudal vertebral bodies, sacrum and pubic bones characterise Type II Achondrogenesis.

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