Developmental field defects: Coming together of associations and sequences during blastogenesis

Joseph H. Hersh; Brad Angle; Terry L. Fox; Rolf F. Barth; Robert W. Bendon; Gordon Gowans

doi:10.1002/ajmg.10429

Developmental field defects: Coming together of associations and sequences during blastogenesis

Joseph H. Hersh^*, Brad Angle, Terry L. Fox, Rolf F. Barth, Robert W. Bendon, Gordon Gowans

^*Corresponding author for this work

Pediatrics

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

17 Scopus citations

Abstract

We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis "associations." One of the infants had a chromosome abnormality characterized by partial duplication and deletion of chromosome 18. VACTERL association was characterized recently as a primary developmental field defect (DFD) [Martínez-Frías et al., 1998: Am J Med Genet 76:291-296]. In some cases, sequences may also represent uncomplicated DFDs. We suggest that findings in both of these cases represent abnormalities of blastogenesis involving the primary field resulting in holoprosencephaly and VACTERL and schisis anomalies, and show that similar primary DFDs are causally heterogeneous.

Original language	English (US)
Pages (from-to)	320-323
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	110
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.10429
State	Published - Jul 15 2002

Keywords

Blastogenesis
Developmental field defects
Holoprosencephaly

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.10429

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title = "Developmental field defects: Coming together of associations and sequences during blastogenesis",

abstract = "We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis {"}associations.{"} One of the infants had a chromosome abnormality characterized by partial duplication and deletion of chromosome 18. VACTERL association was characterized recently as a primary developmental field defect (DFD) [Mart{\'i}nez-Fr{\'i}as et al., 1998: Am J Med Genet 76:291-296]. In some cases, sequences may also represent uncomplicated DFDs. We suggest that findings in both of these cases represent abnormalities of blastogenesis involving the primary field resulting in holoprosencephaly and VACTERL and schisis anomalies, and show that similar primary DFDs are causally heterogeneous.",

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T2 - Coming together of associations and sequences during blastogenesis

AU - Hersh, Joseph H.

AU - Angle, Brad

AU - Fox, Terry L.

AU - Barth, Rolf F.

AU - Bendon, Robert W.

AU - Gowans, Gordon

PY - 2002/7/15

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AB - We report on two patients with an unusual combination of multiple congenital anomalies including holoprosencephaly, encephalocele, and additional defects commonly observed in the VACTERL and schisis "associations." One of the infants had a chromosome abnormality characterized by partial duplication and deletion of chromosome 18. VACTERL association was characterized recently as a primary developmental field defect (DFD) [Martínez-Frías et al., 1998: Am J Med Genet 76:291-296]. In some cases, sequences may also represent uncomplicated DFDs. We suggest that findings in both of these cases represent abnormalities of blastogenesis involving the primary field resulting in holoprosencephaly and VACTERL and schisis anomalies, and show that similar primary DFDs are causally heterogeneous.

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KW - Holoprosencephaly

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Developmental field defects: Coming together of associations and sequences during blastogenesis

Abstract

Keywords

ASJC Scopus subject areas

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