Oromandibular-limb hypogenesis syndrome following chorionic villus sampling

Benjamin Gruber; Barbara K. Burton

doi:10.1016/0165-5876(94)90109-0

Oromandibular-limb hypogenesis syndrome following chorionic villus sampling

Benjamin Gruber^*, Barbara K. Burton

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	59-63
Number of pages	5
Journal	International journal of pediatric otorhinolaryngology
Volume	29
Issue number	1
DOIs	https://doi.org/10.1016/0165-5876(94)90109-0
State	Published - Mar 1994

Keywords

Birth defects
CVS
Chorionic villus sampling
Hypodactyly
Hypoglossia

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Otorhinolaryngology

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10.1016/0165-5876(94)90109-0

Cite this

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title = "Oromandibular-limb hypogenesis syndrome following chorionic villus sampling",

abstract = "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.",

keywords = "Birth defects, CVS, Chorionic villus sampling, Hypodactyly, Hypoglossia",

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AU - Gruber, Benjamin

AU - Burton, Barbara K.

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N2 - 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.

AB - 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.

KW - Birth defects

KW - CVS

KW - Chorionic villus sampling

KW - Hypodactyly

KW - Hypoglossia

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JO - International journal of pediatric otorhinolaryngology

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ER -

Oromandibular-limb hypogenesis syndrome following chorionic villus sampling

Abstract

Keywords

ASJC Scopus subject areas

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