short limb skeletal dysplasia
Preschooler
with short stature. AP radiograph of the lower extremities shows shortened femurs bilaterally with flattened distal epiphyses.The diagnosis was diastrophic dysplasia.
Preschooler
with short stature. AP radiograph of the hand shows diffuse shortening of the phalanges and metacarpals, giving the hand the appearance of a trident. There is also metaphyseal flaring of the distal radius and ulna.The diagnosis was achondroplasia.
Chondrodysplasia
punctata Conradi-Hünermann, pelvic X-ray, newborn; stippled calcifications around femoral metaphysis bilaterally
Infant with
trauma to upper extremity. AP radiograph of the upper extremity shows calcific stippling of cartilage and peri-articular soft tissues in the shoulder and elbow.The diagnosis was chondrodysplasia punctata.
Macrocephaly
• Achondroplasia - Ganzer Fall bei Radiopaedia
Achondroplasia
• Achondroplasia - Ganzer Fall bei Radiopaedia
Short limb skeletal dysplasias are skeletal dysplasias which are characterized by limb shortening
Classification
Rhizomelic (proximal limb shortening)
- hypochondroplasia
- achondroplasia
- chondrodysplasia punctata
- pseudoachondroplasia
- thanatophoric dysplasia
- particularly type II
- kyphomelic dysplasias
Mesomelic (middle segment limb shortening)
- dyschondrosteosis (Leri-Weil disease): limb shortening with a Madelung deformity
- mesomelic dysplasia
- type Langer
- type Reinhardt-Pfeiffer
Acromesomelic (middle and distal segment limb shortening)
- chondroectodermal dysplasia - Ellis-van Creveld syndrome
- 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
- similar to asphyxiating thoracic dysplasia but
- acromesomelic dysplasia
- mesomelic dysplasia
- type Nievergelt
- type Robinow
- type Werner
Acromelic (distal segment shortening)
- 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
- peripheral dysostosis
See also
Siehe auch:
Assoziationen und Differentialdiagnosen zu short limb skeletal dysplasias:
