Keywords:
Genetic defects, Congenital, Medico-legal issues, Conventional radiography, Paediatric, Extremities, Bones
Authors:
L. H. L. De Beuckeleer, K. Carpentier, M. Pouillon; Antwerp/BE
DOI:
10.1594/essr2014/P-0042
Purpose
Adams-Oliver syndrome 2 (AOS2) is a rare congenital disorder characterized by congenital terminal limb defects and a scalp defect (so-called aplasia cutis congenita),
often accompanied by underlying skull ossification defects.
Most patients have,
within a wide range of clinical expression,
malformations of hands,
arms,
feet and legs.
In some only hypoplastic fingers are noted whereas others present without hands and/or lower legs.
Occasionally intellectual deficit and global developmental delay are seen.
Cortical malformations and hydrocephalus may be noticed and epilepsy may be associated [1,2].
Most described cases are transmitted as an autosomal dominant trait but some (as in our case) show an autosomal recessive inheritance pattern [3].
We present the imaging findings on MRI of the brain and on plain films of both hands to familiarize the radiologist with the characteristic imaging features of this syndrome.