diastrophic dysplasia

Preschooler
with short stature. AP radiograph of the lower extremities shows shortened femurs bilaterally with flattened distal epiphyses.The diagnosis was diastrophic dysplasia.
pediatricimaging.org • CC-by-nc-sa 4.0
Preschooler
with short stature. AP radiograph of the thoracic and lumbar spine (left) shows thoracic scoliosis convex right as well as progressive narrowing of the distance between the pedicles descending through the lumbar spine (interpediculate narrowing). The lateral radiograph of the thoracic and lumbar spine (right) shows an irregular shape of the anterior aspect of the vertebral bodies at the thoracolumbar junction, resulting in a kyphotic deformity to the spine.The diagnosis was diastrophic dysplasia.
pediatricimaging.org • CC-by-nc-sa 4.0
Infant with
short limbs. AP radiograph of the pelvis shows absence of the femoral epiphyses. The femoral necks are short and broad with a widened intertrochanteric distance.The diagnosis was diastrophic dysplasia.
pediatricimaging.org • CC-by-nc-sa 4.0
Infant with
short limbs. AP radiograph of the thoracic and lumbar spine shows a mild thoracic scoliosis convex right and progressive narrowing of the distance between the pedicles descending through the lumbar spine (interpediculate narrowing).The diagnosis was diastrophic dysplasia.
pediatricimaging.org • CC-by-nc-sa 4.0
Toddler with
short stature. AP radiograph of the feet (above) shows irregular deformity and shortening of the metatarsal bones. Crescent-shaped flattened epiphyses are present. Forefoot varus, hindfoot varus and hindfoot equinus (below) are also present.The diagnosis was diastrophic dysplasia and club foot.
pediatricimaging.org • CC-by-nc-sa 4.0
Infant with
short stature. AP radiograph of the feet (above) shows irregular deformity and shortening of the metatarsal bones. Crescent-shaped flattened epiphyses are present. Forefoot varus, hindfoot varus and hindfoot equinus (below) are also present.The diagnosis was diastrophic dysplasia.
pediatricimaging.org • CC-by-nc-sa 4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Diastrophic dysplasia (DTD) is a type of short limb skeletal dysplasia (micromelic dwarfism). Adult patients have a stature between 100 and 140 cm.

Epidemiology

There may be a relatively increased prevalence in Finland .

Clinical features

Typically there is limb shortening, hitchhiker thumbs, spinal deformity, and large joint contractures with associated deformities and premature degenerative disease. Other classic findings include ulnar deviation of the fingers, a large sandal gap (space between first and second pedal digits), and clubfoot. IQ is usually normal .

Pathology

Larger than normal collagen fibrils have been extracted from the cartilage matrix in these patients.

Genetics

It carries an autosomal recessive inheritance and thought to be due to mutations in the diastrophic dysplasia sulfate transporter (SLC26A2) gene located at chromosome 5q32-q33.1, resulting in under-sulfated proteoglycans in the cartilage matrix.

Associations

Radiographic features

Characterized by a micromelic dwarfism with hand deformities (abducted or hitchhiker thumb), multiple flexion contractures, and a scoliosis.

The bones are characterized by crescent-shaped flattened epiphyses, a short, broad femoral neck, and shortening and metaphyseal widening of the tubular bones. There is irregular deformity and shortening of the metacarpal bones, metatarsal bones, and phalanges. Abduction of the great toes and clubfeet may also be observed.

Treatment and prognosis

Life expectancy and mental function are usually normal. In view of its autosomal recessive inheritance, there is a 25% change of recurrence. Orthopedic input and intervention is often required for correction or stabilization of skeletal deformities.

History and etymology

The term diastrophic implies twisting and describes the twisted habitus in diastrophic dysplasia.

See also

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Diastrophische Dysplasie:
Skelettdysplasie
 
Wikipedia • CC BY 2.0
short limb
skeletal dysplasias
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