Skeletal Dysplasia PDF

Dysplasia versus dys-ostoses  Dysplasia = abnormality in bone/cartilage growth or texture Phenotype change  Dys-ostoses =abnormality bone formation Phenotype is constant Skeletal survey Common non-lethal radiological groups  GROUP Ⅰ: Epi-physeal dysplasias with/without spine involvement (P...

Dysplasia versus dys-ostoses  Dysplasia = abnormality in bone/cartilage growth or texture Phenotype change  Dys-ostoses =abnormality bone formation Phenotype is constant Skeletal survey Common non-lethal radiological groups  GROUP Ⅰ: Epi-physeal dysplasias with/without spine involvement (Platyspondyly +/-)  GROUP Ⅱ: Metaphyseal dysplasias with limb shortening/abnormal limb length  GROUP Ⅲ: Dysplasias with altered bone density  GROUP Ⅳ: Miscellaneous dysplasias, i.e., those which do not typically have limb shortening or be clearly bracketed anatomically into sponylo-epi/metaphyseal dysplasias Group I epi-physeal dysplasia  Dysplastic epiphysis delayed ossification  irregular Group I epi-physeal dysplasia  Look at the spine searching for platy-spondyly  If present: Spondylo-eiphyseal dysplasia conginita Spondylo-eiphyseal dysplasia tarda Kniest dysplasia Pseudoachondroplasia Metatropic dysplasia Mucopolysacroidosis  If not present: Multiple epiphyseal dysplasia Chondrodysplasia punctata Chondro-dysplasia punctata  X linked dominant(Conradi-Hunermann type)  Recessive (rhizomelic type)  Brachy-telephalengic type(rare) types Chondro-dysplasia punctata Rhizo-melic type Multiple epi-physeal dysplasia  Multiple epiphyses  Double layer patellae  Tibial slant Multiple epi-physeal dysplasia  Tibial slant Spondylo-epiphyseal dysplasia  Conginta(neonatal)  Tarda (late) Spondylo-epiphyseal dysplasia conginta  Knee epiphyses absent pubic bone spine  Pear shaped vertebrae Spondylo-epiphyseal dysplasia tarda  5 - 10 years Spondylo-epiphyseal dysplasia tarda  Heaped up –humped vertebrae Kniest dysplasia (psudo-metropic dysplasia)  epiphysis Spine  coronal clefts Kniest “dumbbell shape”  Left dumbbell=knight Mucopolysacharoidosis  Dys-ostosses multiplex  Epi-physeal irregularities  Spine hooking  Pointing of the proximal metacarpals spine  Peaking Muco-polysacrhoidosis  Peaking of the proximal metacarpal Muco-polysacrhoidosis  slopping of the radius and ulna Iliac bone and hips J shaped Sella & dolicocephaly Paddle(oar) shaped ribs Thick short clavicles Muco-polysacrohidosis Pseudo -achondro-plasia Pseudo-achondroplasia Pseudo-achondroplasia  Tongue like projection ”pathognomonic”. achondroplasia  Younger  Face  Spine  epiphysis Meta-tropic dysplsia  Change phenotype  Hyperplastic achondroplasia Meta-tropic dysplasia spine  Wafer like Metatropic dysplasia  Halbred pelvis  Dumble shaped femure Group II-metaphyseal dysplasias  Abnormal metaphysis  Limb shortening Group II-metaphyseal  Achondroplasia(rhizomelic)  Chondro-ectodermal dysplasia(acromelic) Achondro-plasia  Cartilaginous ossification ”physeal plate”  Membranous ossification  Periosteal “thickness of the bone” Long bone  Inverted V shaped metaphysis pelvis  Tombstone  Large iliac plate  Flat acetabular roof pelvis  Trident pelvis spine  Short pedicle  Inter-pedicular distance “lumbar” chest  ribs Skull hands  Trident hands Chondro-ectodermal dysplasia hands  polydactyli Group III-dysplasias with altered bone density: osteopenic or osteosclerotic  Osteogenesis imperfecta (decreased bone density)  Osteopetrosis (increased bone density) Osteogenesis imperfecta Osteogenesis imperfecta ”britle bone diseases” Osteo-genesis imperfecta  Osteopenia= trabecular transparency and thinning of the cortices Osteogenesis imperfecta  Fractures Bone deformity Bone deformity Wormian bones  Bone within the sutures Child abuse “battered child”  Non accidental injury Metaphyseal fracture  Corner fracture  Bucket handle fracture Rib fractures Skull fracture Child abuse Differential diagnosis “child abuse” increased bone density  Osteo-petrosis  Pykno-dysostosis Osteopetrosis  Osteo-clast activity  anemia Osteopetrosis osteoporosis Pykno-dys-ostoses  Pykno=dense  Dys-ostoses  Osteopetrosis acro-ostylosis  Medullary cavity not involved =no anemia Pykno-dys-ostoses Pykno-dys-ostoses  Acro-osteolysis Pykno-dys-ostoses  Delayed suture closure Pykno-dys-ostoses  Spare transverse process Cleido-cranial dysplasia  thanks Cleidocranial dys-ostosis