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Oromandibular-limb hypogenesis syndrome following chorionic villus sampling
1Department of Otolaryngology, Head and Neck Surgery, Michael Reese Hospital, University of Illinois at Chicago 60616.
International Journal of Pediatric Otorhinolaryngology
|March 1, 1994
Summary
This study presents a case of hypoglossia-hypodactyly syndrome in an infant whose mother had chorionic villus sampling (CVS). Seven such cases linked to CVS suggest a potential association with this rare condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Obstetrics
Background:
- Hypoglossia-hypodactyly syndrome, also known as oromandibular-limb hypogenesis syndrome, is a rare congenital disorder.
- Maternal chorionic villus sampling (CVS) is a common prenatal diagnostic procedure.
- Previous reports have suggested a possible link between CVS and limb reduction deformities.
Observation:
- Presents a case of a female infant diagnosed with hypoglossia-hypodactyly syndrome.
- The infant's mother underwent chorionic villus sampling (CVS) at 9 weeks gestation.
- This is the seventh reported case globally of OHS associated with maternal CVS and the first from the United States.
Findings:
- Seven CVS-related cases of OHS represent a significant increase from the natural incidence of 1 in 175,000 live births.
- An excess of limb reduction deformities has been observed following CVS.
- The review of these cases suggests a potential link between CVS and OHS.
Implications:
- Highlights a potential risk factor for oromandibular-limb hypogenesis syndrome.
- Suggests further investigation into the etiology of CVS-associated limb defects.
- Informs genetic counseling and prenatal diagnostic practices regarding CVS.