Findings: Two views of the left hand reveal multiple abnormalities including syndactyly involving fusion of the third and fourth middle phalanges and irregular fusion of distal phalanges. There is soft tissue fusion as well as abnormal bay appearance of the first digit (thumb).

Diagnosis: Apert's syndrome with "mitten hand" deformity.

Discussion: Apert's Syndrome also known as acrocephalosyndactyly of the Apert type occurs in approximately 15.5 cases per one million births. Most are sporadic; however, autosomal dominant and Mosaic forms are present.

The most prominent finding is early closure of cranial sutures (cranial synostosis), more commonly affecting coronal sutures.

Additional skeletal findings include limb deformity with syndactyly of the digits in upper and lower extremities, known as "mitten hand" and "sock foot" deformities. Craniofacial and CNS findings are also associated with the syndrome.

References:
Taybi and Lachman: Radiology of Syndromes. Metabolic Disorder,
and Skeletal Dysplasias, 4th Edition, 1996.

Dahnert, Radiology Review Manual, 3rd Edition, 1996, pg. 33.

Return to Pediatric Imaging Page