Oromandibular-limb hypogenesis syndrome following chorionic villus sampling

Benjamin Gruber*, Barbara K. Burton

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


A female infant with hypoglossia-hypodactyly syndrome is presented. Her mother underwent chorionic villus sampling (CVS) at 9 weeks gestation. This is the seventh reported case of oromandibular-limb hypogenesis syndrome associated with maternal CVS, the first from the United States. These seven CVS-related cases represent a significant increase over this syndrome's 'natural' incidence of 1 per 175000 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 rare condition is discussed.

Original languageEnglish (US)
Pages (from-to)59-63
Number of pages5
JournalInternational journal of pediatric otorhinolaryngology
Issue number1
StatePublished - Mar 1994


  • Birth defects
  • CVS
  • Chorionic villus sampling
  • Hypodactyly
  • Hypoglossia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology


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