Fryns syndrome: Prenatal diagnosis and pathologic correlation

Jeanne S. Sheffield; Diane M. Twickler; Charles Timmons; Kevin Land; Mary Jo Harrod; Ronald M. Ramus

doi:10.7863/jum.1998.17.9.585

Fryns syndrome: Prenatal diagnosis and pathologic correlation

Jeanne S. Sheffield, Diane M. Twickler, Charles Timmons, Kevin Land, Mary Jo Harrod, Ronald M. Ramus

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

17 Scopus citations

Abstract

Fryns syndrome is a rare autosomal recessive syndrome characterized by dysmorphic facial features, diaphragmatic hernia, distal limb hypoplasia, and pulmonary hypoplasia. A case of Fryns syndrome diagnosed prenatally at 16 weeks is presented. The diagnosis was confirmed on autopsy with the additional finding of fused adrenal glands.

Original language	English (US)
Pages (from-to)	585-589
Number of pages	5
Journal	Journal of Ultrasound in Medicine
Volume	17
Issue number	9
DOIs	https://doi.org/10.7863/jum.1998.17.9.585
State	Published - Sep 1998

ASJC Scopus subject areas

Radiological and Ultrasound Technology
Radiology Nuclear Medicine and imaging

Access to Document

10.7863/jum.1998.17.9.585

Cite this

@article{eb49376510f045a1ad1928b2d0eccc7a,

title = "Fryns syndrome: Prenatal diagnosis and pathologic correlation",

abstract = "Fryns syndrome is a rare autosomal recessive syndrome characterized by dysmorphic facial features, diaphragmatic hernia, distal limb hypoplasia, and pulmonary hypoplasia. A case of Fryns syndrome diagnosed prenatally at 16 weeks is presented. The diagnosis was confirmed on autopsy with the additional finding of fused adrenal glands.",

author = "Sheffield, {Jeanne S.} and Twickler, {Diane M.} and Charles Timmons and Kevin Land and Harrod, {Mary Jo} and Ramus, {Ronald M.}",

year = "1998",

month = sep,

doi = "10.7863/jum.1998.17.9.585",

language = "English (US)",

volume = "17",

pages = "585--589",

journal = "Journal of Ultrasound in Medicine",

issn = "0278-4297",

publisher = "American Institute of Ultrasound in Medicine",

number = "9",

}

TY - JOUR

T1 - Fryns syndrome

T2 - Prenatal diagnosis and pathologic correlation

AU - Sheffield, Jeanne S.

AU - Twickler, Diane M.

AU - Timmons, Charles

AU - Land, Kevin

AU - Harrod, Mary Jo

AU - Ramus, Ronald M.

PY - 1998/9

Y1 - 1998/9

N2 - Fryns syndrome is a rare autosomal recessive syndrome characterized by dysmorphic facial features, diaphragmatic hernia, distal limb hypoplasia, and pulmonary hypoplasia. A case of Fryns syndrome diagnosed prenatally at 16 weeks is presented. The diagnosis was confirmed on autopsy with the additional finding of fused adrenal glands.

AB - Fryns syndrome is a rare autosomal recessive syndrome characterized by dysmorphic facial features, diaphragmatic hernia, distal limb hypoplasia, and pulmonary hypoplasia. A case of Fryns syndrome diagnosed prenatally at 16 weeks is presented. The diagnosis was confirmed on autopsy with the additional finding of fused adrenal glands.

UR - http://www.scopus.com/inward/record.url?scp=0032167521&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032167521&partnerID=8YFLogxK

U2 - 10.7863/jum.1998.17.9.585

DO - 10.7863/jum.1998.17.9.585

M3 - Article

C2 - 9733178

AN - SCOPUS:0032167521

SN - 0278-4297

VL - 17

SP - 585

EP - 589

JO - Journal of Ultrasound in Medicine

JF - Journal of Ultrasound in Medicine

IS - 9

ER -

Fryns syndrome: Prenatal diagnosis and pathologic correlation

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this