5 an introduction to the assessment of skeletal dysplasias_combined ms_mk
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Introduction to the Assessment of Skeletal Dysplasias
M Skae & M KaleemBone & Calcium Disorders Annual Study Day
28th Sept’12
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• Introduction and overview• Assessment – before x-rays• The basics of radiological interpretation• Cardinal clues• X-rays• Who to involve – the MDT• Tools of the trade
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Introduction• Skeletal dysplasias are conditions with generalised
skeletal abnormalities
• Usually associated with disproportionate short stature, normal intelligence
• Incidence 1/5000 live births
• Classified on clinical, radiological and molecular criteria and sometimes histology
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Overview• 2010 Nosology and Classification of Genetic Skeletal
disorders
• >450 different dysplasias, >220 genes
• ~100 have prenatal onset
• remainder presenting in infancy or age 2-3years
• In some conditions, features disappear with time and therefore are more difficult to diagnose retrospectively in adults.
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Radiological diagnostic groupings• Achondroplasia group• Metatropic dysplasia group• Short-rib polydactyly (SRP) group• Diastrophic dysplasia (DD) group• Type II Collagenopathies• SEMDs• Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group• Chondrodysplasia punctata (CDP) group• Metaphyseal chondrodysplasia (MCD)• Spondylometaphyseal dysplasia (SMD) group• Mesomelic dysplasia • Acromelic / acromesomelic group• Dysplasias with prominent membranous bone involvement – CCD• Bent bone dysplasia – Campomelic• Dysostosis multiplex group• Decreased bone density dysplasias – OI• Increased bone density dysplasias – osteopetrosis, pyknodysostosis• Defective mineralisation dysplasias – Hypophosphatasia• Craniotubular dysplasias – Pyle• Disorganised cartilagenous development – enchondrodysplasias• Osteolysis group• Patellar dysplasia – nail-patella syndrome
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Assessment I - disproportionUpper/lower segment ratio: • 1.7 newborn• 1.0 ages 2-8yrs• 0.95 adultSitting height: ascertains trunkal shorteningLimb lengths:• Rhizomelia (humerus and femur)• Mesomelia (radius, ulna, tibia and fibula)• Acromelia (Hands and feet)Body asymmetrySpine: assess for scoliosis, kyphosis and
lordosis
Normal
Rhizomelic
Mesomelic
Micromelic
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Assessment II – General examination
• General examination: facial features, hair quality, dental
health, nails
• Systemic features: renal problems, cardiac abnormalities
• Developmental history: Most normal
• Family history
• Ethnicity: CHH in Amish, SEMD with joint laxity in SA
• Joint pain
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Assessment III - RadiologySkeletal survey:1.Skull AP & Lateral2.Spine AP & Lateral3.Pelvis AP4.4 Limbs AP, occasional lateral Knee
(assessment of patella)5.Hands6.Feet
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Radiological assessment I
• Epiphyseal dysplasia – small under ossified epiphyses
• Metaphyseal dysplasia – widened, flared or irregular metaphyses
• Diaphyseal dysplasia – cortical thickening or marrow space expansion or reduction
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Radiological assessment II
• Epiphyseal dysplasia
• Metaphyseal dysplasia
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Radiological assessment III• Vertebral (spondylo) abnormalities
• Combinations:• Spondylo-epiphyseal dysplasia (SED)• Spondylo-metaphyseal dysplasia (SMD)• Metaphyseal-epiphyseal dysplasia (MED)• Spondylo-epiphyseal-metaphyseal dysplasia
(SEMD)
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Question - Is it acquired?
Rule out acquired causes of bone problems:•Neuromuscular disorders•Chronic diseases – JIA•Poorly healed fractures•Metabolic bone problem
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Question II – Is it a common dysplasia? Kozlowski and Beighton
• Achondroplasia • Cleidocranial dysostosis • Dactyly - Brachydactyly , Camptodactyly , Polydactyly , Syndactyly • Enchondromatosis (Ollier) • Fibrous dysplasia
– usual form (Jaffe-Lichtenstein) – with skin pigmentation and precocious puberty (McCune-Albright)
• Gaucher's • Hypophosphatemic rickets • Marfan's • Multiple hereditary exostoses • Neurofibromatosis • Osteogenesis imperfecta • Osteopetrosis, pyknodysostosis • Osteopoikilosis
INHERITANCEAutosomal dominant (but 50% new mutations) FGFR3
CLINICAL FEATURESMegalocephaly Short limbsProminent forehead Thoracolumbar
kyphosis Midfacial hypoplasia Short stature
RADIOLOGYDiminishing interpeduncular distances between L1 and L5
COMPLICATIONSShort stature Dental malocclusionHydrocephalus Repeated otitis media
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Cardinal clues – cleidocranial dysostosis
• Large head• Delayed suture closure• Hypertelorism, small face• Dental dysplasia – multiple teeth• Hypoplasia / aplasia of the clavicles
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Cardinal clues – cartilage-hair hypoplasia• McKusick type metaphyseal
chondrodysplasia• Short limbed dwarfism• Sparse hair• Autosomal recessive RMRP
gene• T-cell and B-cell
immunodeficiency• Dysplastic nails and
brachydactyly• Notched incisors
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Cardinal clues – Ellis van Creveld (chondroectodermal dysplasia)
• Short stature, mesomelia• Narrow chest and short
ribs• Polydactyly• Dysplastic nails• Dental abnormalities –
missing teeth, lip fusion to gingiva
• Cardiovascular abnormalities
• AR – EVC1 & EVC2
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Cardinal clues - Trichorhinophalyngeal syndrome (TRP) Type II / Langer-Giedion syndrome
• Short stature• Unusual facies – long
bulbous nose• Developmental delay
• Cone epiphyses of the metacarpals
• Bony exostoses especially distal tibia and ulna
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• Ear cysts• Hitchhiker thumb –
shortened 1st metacarpal
Diastrophic dysplasia
• Pierre Robin sequence – midface hypoplasia, high arched palate, micrognathia
• Myopia• Hearing problems
Type II Collagenopathies
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Cardinal clues - Osteopoikilosis• Dalmation disease – AD, LEMD3 & EXT1• small round or oval foci of bone sclerosis located in the
trabecular bone• particularly in the pelvis, metaphyses and epiphyses of
long bones, tarsals, and carpals
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Cardinal clues - Melorheostosis• Dripping wax
appearance• LEMD3 mutations• Linked to
osteopoikilosis• Buschke-
Ollendorff syndrome – dermatofibrosis lenticularis
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Cardinal clues - osteopetrosis
• Extra dense bone
• ‘Bone in bone’ appearance
• Failure of normal osteoclast activity
• May lead to marrow suppression –
pancytopenia
• Neural foramina stenosis
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Cardinal clues - Enchondromatosis
• Ollier’s syndrome• Not inherited• central expansile pattern or linear metaphyseal lucencies• 5-30% malignant degeneration to chondrosarcoma• higher risk if associated with soft tissue haemangiomas
(Mafucci's syndrome)
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Who to involve - The MDT
• Geneticist• Radiographer• Metabolic bone doctor• Orthopaedic surgeon• Spinal surgeon• Physiotherapist• Occupational therapist
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Tools of the trade• A good atlas – Spranger, Brill and
Poznanski
• Warman et al. Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics 2011 May;155(5): 943–968, May 2011
• Alanay & Lachman. A Review of the Principles of Radiological Assessment of Skeletal Dysplasias
• J Clin Res Pediatr Endocrinol. 2011 December; 3(4): 163–178
• Unger et al. A diagnostic approach to skeletal dysplasias. Paediatric Bone Disease 2003, 16. Elselvier Science.
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Phone or e-mail a friend!
• The European Skeletal Dysplasia network (ESDN) – usually accessed by the radiologists or genetists
• The North-western Skeletal Dysplasia Group
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• SEMD – Pseudoachondroplasia (PSACH)
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Musa Kaleem (MBBS, MRCPCH, FRCR)
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Constitutional disorders of bone
osteochondrodysplasias dysostoses Dysplasias (growth)
Osteodystrophies (texture)
Failure of gene expression
Phenotype usually continues to evolve
Defective bone formation due to a defect in blastogenesis
Remain static do not spread to involve
normal bones
Offiah et al; Pediatr Radiol 2003
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28/04/23
Zones•Resting•Proliferating cartilage•Hypertrophic cartilage•Provisional calcification•Ossification
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Genetics Skeletal Survey
Skull (AP & Lat) Spine (AP & Lat) Chest Pelvis One upper limb One lower limb Left hand (bone age)
Additional views Lateral knee for
assessment of patella) Lateral foot (for
calcaneum)
Foetogram/ babygram AP Lateral
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Radiological assessment – stepwise approach Step 1 – assessment of disproportion
Spine limb segments (rhizo/ meso/ acro)
Step 2 – assessment of epiphyses, metaphyses and diaphyses
Step 3 – assessment of bone density / texture
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Radiological assessment (2) Step 4 – search for other clues
Skull Cranio-cervical junction Spine Ribs/ clavicles Pelvis Long bones Hands and feet
Step 5 – Seek help from colleagues/ refer to textbook/ Electronic database
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Radiological diagnostic groupings Achondroplasia group Metatropic dysplasia group Short-rib polydactyly (SRP) group Diastrophic dysplasia (DD) group Type II Collagenopathies SEMD Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group Chondrodysplasia punctata (CDP) group Metaphyseal chondrodysplasia (MCD) Spondylometaphyseal dysplasia (SMD) group Mesomelic dysplasia Acromelic / acromesomelic group Dysplasias with prominent membranous bone involvement – CCD Bent bone dysplasia – Campomelic Dysostosis multiplex group Decreased bone density dysplasias – OI Increased bone density dysplasias – osteopetrosis, pyknodysostosis Defective mineralisation dysplasias – Hypophosphatasia Craniotubular dysplasias – Pyle Disorganised cartilagenous development – enchondrodysplasias Osteolysis group Patellar dysplasia – nail-patella syndrome
Alanay Y, Lachman RS et al; J Clin Res Pediatr Endocrinol: 2011
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DIASTROPHIC DYSPLASIA
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Radiological hints to diagnoses
SkullChanges in density, size and shapeWormian bones
OI Cleidocranial dysostosis Pyknodysostosis
Craniosynostosis Crouzon’s/ Pfeiffer’s
Skull base/ midface hypoplasiaBasilar invagination
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Achondroplasia
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Mucopolysaccharidosis
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Glass R B J et al. Radiographics 2004;24:507-522
Generalised reduced density: Osteogenesis Imperfecta (OI)
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From radiopedia.org
Wormian bones…
They are named after Ole Worm, a Danish anatomist who described them
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OI
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Generalised reduced bone density: HYPOPHOSPHATASIA
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Increased density: osteopetrosis AR Benign vs
malignant forms Presents with
infection/ cranial nerve palsies
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Increased density: generalised
Pycnodysostosis
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Frontometaphyseal dysplasia
Glass R B J et al. Radiographics 2004;24:507-522
Frontometaphyseal dysplasia
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Spine
Odontoid hypoplasia/ atlanto-axial subluxation
Kyphoscoliosis (gibbus) Pedicles (length/ interpediculate distance) Vertebral body shape abnormalities
Platyspondyly Bullet shaped vertebrae/ vertebral beaking Scalloped vertebrae Humps Cleft vertebrae (sagittal/ coronal)
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MPS – dysostosis multiplex
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Achondroplasia
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CDPX2Chondrodysplasia Punctata (x-linked)
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SED Tarda
Short trunk Humped vertebrae Proximal epiphyseal irregularities
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Radiopaedia.org
dd:ChondrodysplasiaPunctataAtelosteogenesisKniest dysplasiaShort rib polydactylyOI
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Pelvis and Lower limbs
Iliac shape / horns Pubis/ ischium ossification Sacro-sciatic notches Acetabulum orientation and shape Femoral head abnormalities
Delayed ossification Abnormal ossification
Metaphyseal irregularities Shortening of long bones
Layered patella Multiple calcaneal ossifications
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Newborn with abnormally soft head
Hypophosphatasia
Heterogenous disorder Low or absent Alk Phos
due to lack of tissue non-specific alk phosphatase
AR: congenital form (lethal) AD: milder
Decreased/absent ossification of calvaria
Poor ossification of vertebrae or islands of deficient bone
Abnormal metaphyses
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11 month old - pancytopaenic Infantile osteopetrosis Diffuse osteosclerosis with a
“bone-in-bone” appearance in the iliac bones and the femora
Irregular femoral metaphyseal ossification
Comment: The bone-in-bone appearance reflects fluctuating disease activity. The innermost bone is the size and shape of a neonatal bone. The metaphyseal appearances may resemble rickets (‘osteopetrorickets’)
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1 month post BMT
2 months
10 months
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2 day old with short limbs
Achondroplasia Rounded iliac wings with
horizontal acetabula and narrow sacrosciatic notches
Narrowing of the lower lumbar interpedicular distance
Upper femoral metaphyses are broad and lucent
The pelvic appearances (‘trident’ acetabulum) are seen in other conditions, but the combination, with the spinal changes indicates achondroplasia.
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Neonate with severe respiratory distress and short limbs
Thanatophoric dysplasia (type 1)
Small iliac bones with small sacrosciatic notches
Broad ischial and pubic bones
Severe platyspondyly Short curved femora
The pelvic appearances are similar to, but more severe than those seen in achondroplasia, as well as those in asphyxiating thoracic dystrophy and related disorders.
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1 year old with short limbs and large joints
Metatropic dysplasia Crescent shaped iliac
crests with short inferior portions of the iliac bones
Low anterior iliac spines and horizontal acetabula
The proximal femora show metaphyseal broadening (‘battle-axe’ appearance)
Small femoral epiphyses Lumbar platyspondyly
Affected individuals may have a tail-like appendage of the sacrum.
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3 year old with short stature and facial dysmorphism Mucopolysaccharidosis
type IV (Morquio disease)
Narrowing of the inferior portions of the iliac bones, with shallow acetabula
Irregular ossification of the femoral epiphyses
Lumbar platyspondyly
The iliac and acetabular morphology is common to all mucopolysacchharidoses. The platyspondyly and epiphseal changes suggest Morquio disease
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11 yr old with painful hips Diagnosis: Multiple
epiphyseal dysplasia Femoral capital epiphyses are
symmetrically flattened The acetabula are mildly
shallow
Normal metaphyses and tubular bones
Varying degrees of platyspondyly and end-plate irregularity
MED results in progressive joint deformities and early degenerative changes. The phenotype may be due to >5 different gene mutations
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Skeletal dysplasia
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Thank you