Forstørret nakkefold kan ses ved osteogenesis imperfecta

Bitten Schönewolf-Greulich; Lillian Skibsted; Lisa Leth Maroun; Allan Meldgaard Lund; Karen Brøndum-Nielsen

Forstørret nakkefold kan ses ved osteogenesis imperfecta

Bitten Schönewolf-Greulich, Lillian Skibsted, Lisa Leth Maroun, Allan Meldgaard Lund, Karen Brøndum-Nielsen

1 Citationer (Scopus)

Abstract

A limited number of reports published since 2001 have described an association between increased nuchal translucency (NT) and osteogenesis imperfecta (OI). We report a new case which underlines the frequency of this association as well as the importance of follow-up and genetic evaluation. In the present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.2 mm and no other pathological findings. At 20 weeks a severe skeletal dysplasia was diagnosed by ultrasound. The pathology report of the aborted foetus indicated OI, and DNA analysis confirmed a COL1A1 mutation.

Bidragets oversatte titel	[Increased nuchal translucency in osteogenesis imperfecta]
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	173
Udgave nummer	13
Sider (fra-til)	973-4
Antal sider	2
ISSN	0041-5782
Status	Udgivet - 2011

Emneord

Collagen Type I
Female
Gestational Age
Humans
Nuchal Translucency Measurement
Osteogenesis Imperfecta
Pregnancy

Citationsformater

@article{0563ee3ad5164f5f9735c12fe56d4cc4,

title = "Forst{\o}rret nakkefold kan ses ved osteogenesis imperfecta",

abstract = "A limited number of reports published since 2001 have described an association between increased nuchal translucency (NT) and osteogenesis imperfecta (OI). We report a new case which underlines the frequency of this association as well as the importance of follow-up and genetic evaluation. In the present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.2 mm and no other pathological findings. At 20 weeks a severe skeletal dysplasia was diagnosed by ultrasound. The pathology report of the aborted foetus indicated OI, and DNA analysis confirmed a COL1A1 mutation.",

keywords = "Collagen Type I, Female, Gestational Age, Humans, Nuchal Translucency Measurement, Osteogenesis Imperfecta, Pregnancy",

author = "Bitten Sch{\"o}newolf-Greulich and Lillian Skibsted and Maroun, {Lisa Leth} and Lund, {Allan Meldgaard} and Karen Br{\o}ndum-Nielsen",

year = "2011",

language = "Dansk",

volume = "173",

pages = "973--4",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "13",

}

TY - JOUR

T1 - Forstørret nakkefold kan ses ved osteogenesis imperfecta

AU - Schönewolf-Greulich, Bitten

AU - Skibsted, Lillian

AU - Maroun, Lisa Leth

AU - Lund, Allan Meldgaard

AU - Brøndum-Nielsen, Karen

PY - 2011

Y1 - 2011

N2 - A limited number of reports published since 2001 have described an association between increased nuchal translucency (NT) and osteogenesis imperfecta (OI). We report a new case which underlines the frequency of this association as well as the importance of follow-up and genetic evaluation. In the present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.2 mm and no other pathological findings. At 20 weeks a severe skeletal dysplasia was diagnosed by ultrasound. The pathology report of the aborted foetus indicated OI, and DNA analysis confirmed a COL1A1 mutation.

AB - A limited number of reports published since 2001 have described an association between increased nuchal translucency (NT) and osteogenesis imperfecta (OI). We report a new case which underlines the frequency of this association as well as the importance of follow-up and genetic evaluation. In the present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.2 mm and no other pathological findings. At 20 weeks a severe skeletal dysplasia was diagnosed by ultrasound. The pathology report of the aborted foetus indicated OI, and DNA analysis confirmed a COL1A1 mutation.

KW - Collagen Type I

KW - Female

KW - Gestational Age

KW - Humans

KW - Nuchal Translucency Measurement

KW - Osteogenesis Imperfecta

KW - Pregnancy

M3 - Tidsskriftartikel

C2 - 21453639

SN - 0041-5782

VL - 173

SP - 973

EP - 974

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 13

ER -

Forstørret nakkefold kan ses ved osteogenesis imperfecta

Abstract

Emneord

Fingeraftryk

Citationsformater