Diastrophic dysplasia

Christine Carqueville

Andrew Poznanski, M.D.

Children's Memorial Hospital

Abstract

Neonate with short extremities, cystic ear mass and club feet

Keywords

Diastrophic dysplasia, hitchhiker thumb, club feet, cervical kyphosis, epiphyseal dysplasia, bone/skeletal dysplasia, plain film, 617


Publication Date: 2005-05-03

History

Neonate with short extremities, cystic ear mass and club feet.

Findings

Image 1: Hand - Very short first metacarpal, triangular proximal phalanx of third digit, "hitchhiker's thumb". This is probably the result of longitudinal bracket epiphyses.

Image 2: Pelvis - Decreased space between the proximal femoral metaphysis and the acetabulum indicating a small femoral head and neck.

Image 3: Cervical kyphosis.

Image 4: Short limbs and club feet.

Image 5: Club foot.

Differential

- Other short limb dwarfism

- Cervical kyphosis is also seen in Larson syndrome and Campomelic syndrome.

- The small size of the cartilagenous femoral heads can also be seen in multiple epipyseal dysplasia and spondyloic epiphyseal dysplasia.

Discussion

Diastrophic dysplasia (diastrophic dwarfism) is an autosomal recessive dysplasia identifiable at birth. The name refers to the characteristic twisted extremities (club foot) and vertebral column (scoliosis). A marked cervical kyphosis usually develops. Other clinical findings include short stature and extremities, abduction of a hypermobile thumb with a short first metacarpal ("hitchhiker's thumb"), the first toe is often in exaggerated varus position, limited mobility and dislocation of peripheral joints, and a cleft or high-arched palate (in about half of cases). In newborn period, blister-like bullae appear on the external ear and result in thickening and deformity of the pinna in later years.

Radiographic examination demonstrates shortened tubular bones; widened metaphyses; and crescent-shaped, flattened epiphyses. Longitudinal physes are often seen. The capital femoral epiphyses are delayed in appearance and there is underossification of the lateral distal femoral epiphyses. The femoral neck is short and broad in the trocharteric region. The metacarpals, metatarsals, and phalanges are irregularly deformed and shortened. Scoliosis is usually associated with cervical and thracic kyphosis and lumbar lordosis. In childhood, there is an accessory ossification center of the manubrium sterni.

References

  1. Spranger, J., Brill, P., Poznanski, A., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 200.
  2. Kirks, D.R., Griscom, N.T., PRACTICAL PEDIATRIC IMAGING: Diagnostic Radiology of Infants and Children, Lippincott-Raven Publishers, 1998, 354.

5 images