help skeletaldysplasia
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HELPSKELETAL DYSPLASIA
William G. Mackenzie, MD; Charles I. Scott, Jr, MD; Linda Nicholson, MS, MC
Alfred I. duPont Hospital for Children, Wilmington, DE
www.global-help.org
ACHONDROPLASIAINITIAL EVALUATION MULTIPLE EPIPHYSEAL DYSPLASIA PSEUDOACHONDROPLASIA
SPONDYLOEPIPHYSEAL DYSPLASIA DIASTROPHIC DYSPLASIA MORQUIO SYNDROME
History and Physical Exam
Developmental motor delay, loss of function, neurological complaintsFamily history
Facial features; spinal deformity; limbs-joint laxity, deformity;neurological exam; proportion- short vs. average trunk length; limbshortening- rhizo, meso or acromelia
Typical Radiographs
Flexion and extension lateral C-spine, AP and lateral thoracolumbarspline, AP and lateral lower extremities hip to ankles, AP both handsand wrists
Etiology
FGFR3 (broblast growth factorreceptor 3)Autosomal Dominant
Diagnosis
Clinical diagnosis at birth can beconrmed using lab tests and radiological features
Clinical Features
Average length and weight at birthMacrocephaly, Mid-face hypoplasiaRhizomeliaGenu varumTrident hand
Clinical Problems
Foramen magnum stenosisSleep apneaHydrocephalus
Thoracolumbar kyphosisusually resolves
Frequent otitis mediaGenu varumLumbar and cervical spinal
stenosisObesityRarely needs joint replacement
Etiology
Multiple subtypes:most common congenital
Type II collagenopathy
Diagnosis
At birth; Short trunk, short limbRadiographic features
Clinical Features
Extreme short statureLong, slim ngersWaddling gait
Lumbar lordosisGenu valgum
Clinical Problems
Cervical instabilityKyphoscoliosisCoxa varaMyopia, retinal detachmentEventual joint replacement
Etiology
COMP (collagen oligomeric matrixprotein) abnormalityType IX collagen (less severe)
Autosomal dominant
Diagnosis
Radiographic featuresNot usually recognized until
age 5-10 yrs
Clinical Features
Mild short-statureDelayed walkingGenu valgum
Clinical Problems
Painful, stiff jointsLimb malalignmentEventual joint replacement
Etiology
COMP (collagen oligomeric matrixprotein) abnormalityAutosomal dominant
Diagnosis
Radiographic featuresShort-limbed dwarsm not usually
recognized until 2-3 yrs
Clinical Features
Normal faceShort, stubby, hyper mobile ngersGenu varus/valus or windsweptMarked ligamentous laxity
Clinical Problems
Cervical spine instabilityLimb malalignmentEventual joint replacement
Etiology
Sulphate transporter defectAutosomal recessive
Diagnosis
At birth; cleft palate, clubfeet, hitchhiker thumb,
Symphalangism, cauliower earsdevelop early
Clinical Features
Short statureFlexion contractures hips knees
Lateral patellar dislocationFoot deformity
Clinical Problems
LaryngotracheomalaciaCervical kyphosisKyphoscoliosisHip dysplasiaLimb MalalignmentJoint replacement common
Etiology
Mucopolysaccharidosis Type IVAN-acetylgalactosamine-6-sulphatase
deciencyAutosomal recessive
Diagnosis
Not made at birth, short statureapparent by 2 yrs
Radiographic featuresUrine screen keratan sulfateMolecular genetic testing
Clinical Features
Normal intelligenceAwkward gait, genu valgumBarrel-shaped chest, pectus
carinatumExtreme ligamentous laxity
Clinical Problems
Cervical spine instability(odontoid hypoplasia)
Limb malalignmentCorneal opacity (at 5-10 yrs)CardiomyopathyJoint replacement common
Spondyleopiphysealdysplasia. Primarily
epiphysealinvolvement.
Chondrectodermaldysplasia. Selective
tibial epiphysealinvolvement.
Metaphysealdysplasia. Note
similarity to rickets.
Metatropic Dysplasia.Epiphysis and
metaphysis involved.
SpondyleopiphysealDysplasia
MorquiosSyndrome
MetatropicDysplasia
Platyspondyly
4 yo raternal twins, one with
achondroplasia. Note rhizometic limbshortening and normal trunk length
Short trunk in
Morquios syndrome
Areas of Limb Involvement
Platyspondyly,Scoliosis
Severe epiphyseal dysplasia,coxa vara
Short, thick tubular bones, delayed andragmented epiphyses, hip dysplasia
Cervical kyphosis otenresolves spontaneously
Platyspondyly withcentral beaking
Hip dysplasia
Short broad long bones with aredmetaphyses and small epiphyses
Platyspondyly
Radiographs and MRI C1-2 instabilitywith cord compression
Delayed epiphyseal ossifcation andsmall epiphysesAppearance o bilateral Legg-
Perthes is common in MEDRhizomelia, Notched
(V shaped) physesNarrowing interpediculate distance
Champagne glass pelvis
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ISBN 978-1-60189-030-6