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 delayare seen. Cortical malformations and hydrocephalus may be noticed and epilepsy may be associated [1,2]. Most described...

A female newborn, born at 42 weeks of gestational age out of consanguineous parents, presents with a huge scalp defect and dysmorphic "amputated" fingers and hypoplastic nails. The baby showed a normal anterior fontanel, covered by normal skin. The posterior fontanel however was large and solely covered by a white-greyish thinmembrane with erythematous borders, measuring 1 by 2 cm. Clinical examination depicts at the right hand dysplastic second to fifth fingers with normal metacarpals but no phalangeal structures. The right thumb is hypoplastic, but a...

On MR imaging of the brain, a large skull defect is seen at the right posterolateral aspect on sagittal T1-WI (Figs. 1 & 2), together with a hypoplastic corpus callosum. On axialFLAIR and T2-weighted images,a bilateral 'closed lip' schizencephaly (Figs. 3 & 4)is noted. The sagittal T1-weightedimages show periventricular nodules (Fig. 1), corresponding to calcifications as shown on a non-enhanced CT scan of the head, performed afterwards (Fig.5). Plain radiographs of the hands and forearms show a normal aspect of the right metacarpal bones, but...

Adams-Oliver syndrome 2 (AOS2) is an autosomal recessive syndrome characterized by terminal transverse limb defects and a scalp defect (aplasia cutis congenita). We present a case of a newborn with characteristic clinical and imaging features of AOS2 to familiarize the radiologist with these features, since accurate radiological workup may be valuable in determining the definite diagnosis, which ultimately is to be proven by sequential DNA analysis, confirming a defect in the DOCK6 gene.

1) Amor DJ, Leventer RJ, Hayllar S, Bankier A. Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. Am J Med Genet 2000;93:328-334 2) McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet 2008;146A:488-491 3) Balasubramanian M, Collins AL. Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver syndrome. Europ...