Dwarfism with Short Ribs
Catherine C. Roberts, MD
DIFFERENTIAL DIAGNOSIS
Common
Achondroplasia
Less Common
Cleidocranial Dysplasia
Chondroectodermal Dysplasia (Ellis-van Creveld)
Rare but Important
Mucopolysaccharidoses
Thanatophoric Dwarf
Asphyxiating Thoracic Dystrophy of Jeune
Camptomelic Dysplasia
Achondrogenesis
Mucolipidosis 2 and 3
Otopalatodigital Syndrome
Short-Rib Polydactyly Syndrome
ESSENTIAL INFORMATION
Helpful Clues for Diagnoses
Achondroplasia
Short trunk with short, wide ribs that do not extend around chest
Cleidocranial Dysplasia
Cone-shaped chest with short ribs due to long cartilaginous segments
Hypoplastic clavicles
Small scapulae
Chondroectodermal Dysplasia (Ellis-van Creveld)
Short, heavy tubular bones (including ribs)
Handlebar clavicles
Mucopolysaccharidoses
Oar-shaped, short ribs
Short clavicles
Morquio syndrome = thin posterior portion of rib
Thanatophoric Dwarf
Short ribs with cupped costochondral junctions
Long trunk with small chest
Asphyxiating Thoracic Dystrophy of Jeune
Horizontal, short ribs with bulbous ends
Bell-shaped thoracic cage
Handlebar clavicles
Camptomelic Dysplasia
Bell-shaped thorax
11 pairs of shortened ribs
Hypoplastic cervical vertebrae
Achondrogenesis
Short tubular bones & long bones
Minimal mineralization of vertebral bodies
Mucolipidosis 2 and 3
Short, wide ribs similar to mucopolysaccharidoses
Otopalatodigital Syndrome
Ribs are short, wavy and angled
Long scapular bodies
Precocious fusion of sternum
Sloped clavicles
Short-Rib Polydactyly Syndrome
Very short, horizontal ribs
Deformed, elevated clavicles
Small scapulae
Polydactyly
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