OROMANDIBULAR-LIMB HYPOGENESIS SYNDROME FOLLOWING CHORIONIC VILLUS SAMPLING

A female infant with hypoglossia-hypodactyly syndrome is presented. He r mother underwent chorionic villus sampling (CVS) at 9 weeks gestatio n. This is the seventh reported case of oromandibular-limb hypogenesis syndrome associated with maternal CVS, the first from the United Stat es. These seven CVS-related cases represent a significant increase ove r this syndrome's 'natural' incidence of 1 per 175 000 live births. An excess of limb reduction deformities has also been seen following CVS . These seven cases are reviewed, and the possible etiology of this ra re condition is discussed.