Oromandibular-limb hypogenesis syndrome following chorionic villus sampling

Oromandibular-limb hypogenesis syndrome following chorionic villus sampling

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-...

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Veröffentlicht in:International journal of pediatric otorhinolaryngology 1994-03, Vol.29 (1), p.59-63
Hauptverfasser: Gruber, Benjamin, Burton, Barbara K.
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Birth defects
Chorionic Villi Sampling - adverse effects
Chorionic villus sampling
Complex syndromes
CVS
Facial Neoplasms - pathology
Female
Fingers - abnormalities
Hemangioma - pathology
Humans
Hypodactyly
Hypoglossia
Infant
Mandible - abnormalities
Medical genetics
Medical sciences
Micrognathism - pathology
Mouth Abnormalities - pathology
Syndrome
Toes - abnormalities
Tongue - pathology
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Zusammenfassung: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.
ISSN:0165-5876
1872-8464
DOI:10.1016/0165-5876(94)90109-0