Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies

A 1-year-old female with the following multiple congenital anomalies is described: large vascular plaques on the scalp with atrophy and ulcerations, cutis marmorata and dilated veins on the trunk and extremities, short toes with partially missing phalanges and nails, retro- and micrognathia, strabismus convergens and atrial septal defect. These anomalies are characteristic of the Adams-Oliver syndrome, a rare autosomal dominant neuroectodermal syndrome which may be a maximal variant of van Lohuizen's syndrome (cutis marmorata teleangiectatica congenita).