Dwarfism with Short Extremities

Catherine C. Roberts, MD

DIFFERENTIAL DIAGNOSIS

Common

Less Common

Rare but Important

ESSENTIAL INFORMATION

Helpful Clues for Diagnoses

Achondroplasia
- Short, thick tubular bones with flared metaphyses
- Hemispheric femoral head
- Overgrown fibulae
Pseudoachondroplasia
- Splayed, fragmented, irregular metaphyses
Achondrogenesis
- Short tubular bones and long bones
- Nonossified sacrum and pubis
Chondrodysplasia Punctata
- Punctate calcifications in cartilage and periarticular regions
Dyschondrosteosis
- Madelung deformity of forearms
- Beaking of medial tibial metaphysis
Mesomelic Dysplasia
- Hypoplastic fibula
Multiple Epiphyseal Dysplasia
- Marked epiphyseal ossification delay
- Small, fragmented epiphyses
- Femoral head avascular necrosis
Hypochondroplasia
- Shortened long bones with wide diaphyses
- Brachydactyly
Chondroectodermal Dysplasia (Ellis-van Creveld)
- Short, heavy tubular bones
- Spur at medial distal humeral metaphysis
- Cone-shaped epiphyses of middle phalanges and polydactyly
- Camptomelic Dysplasia
  - 5th digit clinodactyly
- Thanatophoric Dwarf
  - Short, bowed limbs, “French telephone receiver femurs”
  - Flared metaphyses
- Asphyxiating Thoracic Dystrophy of Jeune
- Hands with cone-shaped epiphyses
- Handlebar clavicles
Kniest Dysplasia
- “Swiss cheese” cartilage dysplasia
- Short, dumbbell-shaped long bones