Fraser syndrome: Affected siblings born to nonconsanguineous parents and diagnosed at autopsy

Ann De Jong; Miranda Warren; William Rehrauer; Josephine Harter; Melissa Baraboo; Sunita Chandra; Richard M. Pauli; Don B. Singer; And Michael K Fritsch

doi:10.2350/07-04-0254.1

Fraser syndrome: Affected siblings born to nonconsanguineous parents and diagnosed at autopsy

Ann De Jong, Miranda Warren, William Rehrauer, Josephine Harter, Melissa Baraboo, Sunita Chandra, Richard M. Pauli, Don B. Singer, And Michael K Fritsch^*

^*Corresponding author for this work

Pathology

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

3 Scopus citations

Abstract

Fraser syndrome (MIM #219000) is a rare genetic disorder with major features including cryptophthalmos, syndacryly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/ FREM2 genes may cause Fraser syndrome.

Original language	English (US)
Pages (from-to)	220-225
Number of pages	6
Journal	Pediatric and Developmental Pathology
Volume	11
Issue number	3
DOIs	https://doi.org/10.2350/07-04-0254.1
State	Published - May 2008

Keywords

Autosomal
Cryptophthalmos
Fraser syndrome
Syndactyly

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pathology and Forensic Medicine

Access to Document

10.2350/07-04-0254.1

Cite this

@article{652d548bbd8340f8baf44255296821ca,

title = "Fraser syndrome: Affected siblings born to nonconsanguineous parents and diagnosed at autopsy",

abstract = "Fraser syndrome (MIM #219000) is a rare genetic disorder with major features including cryptophthalmos, syndacryly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/ FREM2 genes may cause Fraser syndrome.",

keywords = "Autosomal, Cryptophthalmos, Fraser syndrome, Syndactyly",

author = "{De Jong}, Ann and Miranda Warren and William Rehrauer and Josephine Harter and Melissa Baraboo and Sunita Chandra and Pauli, {Richard M.} and Singer, {Don B.} and Fritsch, {And Michael K}",

year = "2008",

month = may,

doi = "10.2350/07-04-0254.1",

language = "English (US)",

volume = "11",

pages = "220--225",

journal = "Pediatric and Developmental Pathology",

issn = "1093-5266",

publisher = "SAGE Publications Inc.",

number = "3",

}

TY - JOUR

T1 - Fraser syndrome

T2 - Affected siblings born to nonconsanguineous parents and diagnosed at autopsy

AU - De Jong, Ann

AU - Warren, Miranda

AU - Rehrauer, William

AU - Harter, Josephine

AU - Baraboo, Melissa

AU - Chandra, Sunita

AU - Pauli, Richard M.

AU - Singer, Don B.

AU - Fritsch, And Michael K

PY - 2008/5

Y1 - 2008/5

N2 - Fraser syndrome (MIM #219000) is a rare genetic disorder with major features including cryptophthalmos, syndacryly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/ FREM2 genes may cause Fraser syndrome.

AB - Fraser syndrome (MIM #219000) is a rare genetic disorder with major features including cryptophthalmos, syndacryly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/ FREM2 genes may cause Fraser syndrome.

KW - Autosomal

KW - Cryptophthalmos

KW - Fraser syndrome

KW - Syndactyly

UR - http://www.scopus.com/inward/record.url?scp=48849111851&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=48849111851&partnerID=8YFLogxK

U2 - 10.2350/07-04-0254.1

DO - 10.2350/07-04-0254.1

M3 - Article

C2 - 17990920

AN - SCOPUS:48849111851

SN - 1093-5266

VL - 11

SP - 220

EP - 225

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

IS - 3

ER -

Fraser syndrome: Affected siblings born to nonconsanguineous parents and diagnosed at autopsy

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this