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

Translated title of the contribution: [Increased nuchal translucency in osteogenesis imperfecta]

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

Medical Genetics Program

1 Citation (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.

Translated title of the contribution	[Increased nuchal translucency in osteogenesis imperfecta]
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	173
Issue number	13
Pages (from-to)	973-4
Number of pages	2
Publication status	Published - 28 Mar 2011

Cite this

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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",

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day = "28",

language = "Dansk",

volume = "173",

pages = "973--4",

journal = "Ugeskrift for Laeger",

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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 - 2011/3/28

Y1 - 2011/3/28

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

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