Ektrodaktylie

Ectrodactyly (also known as a split hand-split foot malformation, cleft hand or lobster claw hand) is a skeletal anomaly predominantly affecting the hands (although the feet can also be affected). The condition has a highly variable severity.

Epidemiology

The estimated incidence is at ~ 1 in 90,000-150,000 births.

Pathology

It results from a longitudinal deficiency in central digits where the mechanism is thought to be a failure of the median apical ectodermal ridge in the developing limb bud.

Genetics

The most common mode of transmission is as an autosomal dominant trait, although autosomal recessive and X-linked modes of transmission also have been described.

Associations

Radiographic features

Plain film
  • there is a deficiency or absence of one or more central digits of the hand +/- feet
  • characterized by a deep V- or U-shaped central bony defect

Differential diagnosis

General differential considerations include

Siehe auch:
und weiter: