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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

9 7 8 1 6 0 1 8 9 0 3 0 6

ISBN 978-1-60189-030-6