Short limb skeletal dysplasias are skeletal dysplasias which are characterized by limb shortening
Pathology
Rhizomelic (proximal limb shortening)
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particularly type II
Mesomelic (middle segment limb shortening)
dyschondrosteosis (Leri-Weil disease): limb shortening with a Madelung deformity
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type Langer
type Reinhardt-Pfeiffer
Acromesomelic (middle and distal segment limb shortening)
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chondroectodermal dysplasia - Ellis-van Creveld syndrome
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similar to asphyxiating thoracic dysplasia but
(a) hexadactyly is a constant finding
(b) there is severe hypoplasia of the fingers and nails
(c) congenital heart disease is common and
(d) hypoplastic lateral tibial plateau is characteristic in childhood
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type Nievergelt
type Robinow
type Werner
Acromelic (distal segment shortening)
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asphyxiating thoracic dysplasia/Jeune's syndrome:
narrow thorax with short ribs leading to respiratory distress
spur-like projections of the acetabular roof
premature ossification of the femoral capital epiphyses
occasional postaxial hexadactyly
cone-shaped epiphyses in childhood
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