Prenatal Diagnosis of Apert Syndrome

Wendy F. Hansen; Asha Rijhsinghani; Stanley Grant; Jerome Yankowitz

doi:10.1159/000075135

Prenatal Diagnosis of Apert Syndrome

Wendy F. Hansen, Asha Rijhsinghani, Stanley Grant, Jerome Yankowitz

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

16 Scopus citations

Abstract

Objective: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. Method: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. Results and Conclusion: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.

Original language	English
Pages (from-to)	127-130
Number of pages	4
Journal	Fetal Diagnosis and Therapy
Volume	19
Issue number	2
DOIs	https://doi.org/10.1159/000075135
State	Published - 2004

Keywords

Apert syndrome
Craniosynostosis
Fibroblast growth factor receptor-2
Syndactyly

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Embryology
Radiology Nuclear Medicine and imaging
Obstetrics and Gynecology

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title = "Prenatal Diagnosis of Apert Syndrome",

abstract = "Objective: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. Method: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. Results and Conclusion: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.",

keywords = "Apert syndrome, Craniosynostosis, Fibroblast growth factor receptor-2, Syndactyly",

author = "Hansen, {Wendy F.} and Asha Rijhsinghani and Stanley Grant and Jerome Yankowitz",

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doi = "10.1159/000075135",

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volume = "19",

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T1 - Prenatal Diagnosis of Apert Syndrome

AU - Hansen, Wendy F.

AU - Rijhsinghani, Asha

AU - Grant, Stanley

AU - Yankowitz, Jerome

PY - 2004

Y1 - 2004

N2 - Objective: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. Method: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. Results and Conclusion: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.

AB - Objective: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. Method: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. Results and Conclusion: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.

KW - Apert syndrome

KW - Craniosynostosis

KW - Fibroblast growth factor receptor-2

KW - Syndactyly

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JO - Fetal Diagnosis and Therapy

JF - Fetal Diagnosis and Therapy

IS - 2

ER -

Prenatal Diagnosis of Apert Syndrome

Abstract

Keywords

ASJC Scopus subject areas

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