Dwarfism with Major Spine Involvement



Dwarfism with Major Spine Involvement


Catherine C. Roberts, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Achondroplasia


  • Thanatophoric Dwarf


  • Spondyloepiphyseal Dysplasia


Less Common



  • Hypothyroidism, Child (Mimic)


  • Noonan Syndrome


  • Morquio Syndrome


  • Hurler Syndrome


  • Hunter Syndrome


Rare but Important



  • Progeria


  • Hypochondroplasia


  • Metatropic Dwarfism


  • Diastrophic Dwarfism


  • Kniest Dysplasia


  • Camptomelic Dysplasia


  • Osteoglophonic Dysplasia


  • Dyssegmental Dysplasia


ESSENTIAL INFORMATION


Helpful Clues for Diagnoses



  • Achondroplasia



    • Short, flat vertebral bodies; decreasing interpediculate distance L1 → L5


    • Posterior vertebral body scalloping


    • Hypoplastic upper lumbar vertebral bodies


  • Thanatophoric Dwarf



    • Platyspondyly with rounded anterior vertebral bodies


  • Spondyloepiphyseal Dysplasia



    • Ovoid or pear-shaped vertebrae in infancy


    • Central, anterior vertebral body beak


    • Odontoid hypoplasia


  • Hypothyroidism, Child (Mimic)



    • Congenital vertebral anomalies: Hemivertebrae, abnormal rib-vertebral articulations, platyspondyly



      • “Sail” vertebrae = upper lumbar vertebra with wedge or hook shape


  • Noonan Syndrome



    • Klippel-Feil anomaly


    • Scoliosis & kyphosis


  • Morquio Syndrome



    • Extensive vertebra plana


    • Central, anterior vertebral body beak


    • Diminutive or disappearing dens of axis


  • Hurler Syndrome



    • Anterior inferior vertebral body beak


    • Oval to biconvex vertebral bodies


    • Absent dens → atlantoaxial subluxation


  • Hunter Syndrome



    • Inferior beak similar to Hurler syndrome


    • Posterior vertebral body scalloping


  • Progeria



    • Infantile central notching retained


  • Hypochondroplasia



    • Decreased interpediculate distance L1 → L5


  • Kniest Dysplasia



    • Platyspondyly with narrow interpediculate distance


    • Coronal vertebral body clefts, infants


  • Camptomelic Dysplasia



    • Hypoplastic cervical vertebrae






Image Gallery









Sagittal T2WI MR shows posterior vertebral scalloping image, anterior beaking image, as well as hypoplasia of L1 and L2. This results in a focal kyphosis image.

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Aug 10, 2016 | Posted by in PEDIATRICS | Comments Off on Dwarfism with Major Spine Involvement

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