Congenital and Acquired Childhood Platyspondyly
Cheryl A. Petersilge, MD
DIFFERENTIAL DIAGNOSIS
Common
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Trauma
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Langerhans Cell Histiocytosis
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Leukemia
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Metastatic Disease
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Ewing Sarcoma
Less Common
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Achondroplasia (Homozygous)
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Osteogenesis Imperfecta
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Pseudoachondroplasia
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Mucopolysaccharidoses
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Radiation-Induced
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Spondyloepiphyseal Dysplasia
Rare but Important
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Homocystinuria
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Idiopathic Juvenile Osteoporosis
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Cushing Disease
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Thanatophoric Dwarfism
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Metatropic Dwarfism
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Kniest Dysplasia
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Short Rib Polydactyly
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Hypophosphatasia
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
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Platyspondyly: Generalized vertebral collapse maintaining relatively parallel endplates
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Differentiating features: Congenital presentation vs. childhood onset; diffuse collapse vs. solitary or multifocal collapse
Helpful Clues for Common Diagnoses
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Trauma
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Solitary or multifocal, history diagnostic
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Any age
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Langerhans Cell Histiocytosis
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Childhood; thoracic spine main site
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Solitary or few vertebra involved
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May reconstitute during healing
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Leukemia
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Age 2-5 years
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Variable presentations
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Generalized osteoporosis, diffuse collapse
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Focal lesion(s) with permeative destruction, periostitis, soft tissue mass; collapse solitary or multifocal
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Metaphyseal bands (lucent, dense, or alternating), may involve vertebra
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Metastatic Disease
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Neuroblastoma, retinoblastoma, Wilms
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± soft tissue mass, skeletal imaging nonspecific
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Ewing Sarcoma
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Teens, young adults
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Solitary lesion
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Permeative destruction, soft tissue mass
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Helpful Clues for Less Common Diagnoses
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Achondroplasia (Homozygous)
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Radiographically and clinically mimics thanatophoric dwarfism
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Both parents have achondroplasia
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Diffuse collapse
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Congenital presentation
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Osteogenesis Imperfecta
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Generalized osteoporosis
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Solitary, multiple, or diffuse vertebra involved
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Depends on severity of disease
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Younger patients at presentation have more extensive disease
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May be congenital
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Multiple fractures axial and appendicular skeleton
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Congenital platyspondyly type 2A
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Micromelia, short ribs
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Pseudoachondroplasia
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Rhizomelic dwarf
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Normal infancy, manifests by age 2-3 years
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As child develops, mimics spondyloepiphyseal dysplasia
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Diffuse collapse develops during childhood
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Mucopolysaccharidoses
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Short stature, diffuse skeletal dysplasia
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Coarse facial features
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Diffuse collapse
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Congenital presentation
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Morquio, Hunter best known
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Mental retardation with Hunter
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Radiation-Induced
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Regional osteoporosis
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May affect only 1 side of vertebra
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± scoliosis
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May induce osteochondroma formation
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Spondyloepiphyseal Dysplasia
Helpful Clues for Rare Diagnoses
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Homocystinuria
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Nonspecific osteoporosis
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Scoliosis
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Diffuse collapse develops in childhood
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Body habitus mimics Marfan
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Mental retardation
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