Prenatal diagnosis of boomerang dysplasia

Marja W. Wessels; Nicolette S. Den Hollander; Ronald R. De Krijger; Luisa Bonifé; Andrea Superti-Furga; Peter G. Nikkels; Patrick J. Willems

doi:10.1002/ajmg.a.20239

Prenatal diagnosis of boomerang dysplasia

Marja W. Wessels, Nicolette S. Den Hollander, Ronald R. De Krijger, Luisa Bonifé, Andrea Superti-Furga, Peter G. Nikkels, Patrick J. Willems

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

10 Citaten (Scopus)

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Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound.

Originele taal-2	Engels
Pagina's (van-tot)	148-154
Aantal pagina's	7
Tijdschrift	American Journal of Medical Genetics
Volume	122 A
Nummer van het tijdschrift	2
DOI's	https://doi.org/10.1002/ajmg.a.20239
Status	Gepubliceerd - 1 okt. 2003
Extern gepubliceerd	Ja

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title = "Prenatal diagnosis of boomerang dysplasia",

abstract = "Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound.",

keywords = "Atelosteogenesis, Boomerang dysplasia, Dwarfism, Lethal chondrodysplasia, Piepkorn dysplasia, Prenatal diagnosis, Ultrasound",

author = "Wessels, {Marja W.} and {Den Hollander}, {Nicolette S.} and {De Krijger}, {Ronald R.} and Luisa Bonif{\'e} and Andrea Superti-Furga and Nikkels, {Peter G.} and Willems, {Patrick J.}",

year = "2003",

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doi = "10.1002/ajmg.a.20239",

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T1 - Prenatal diagnosis of boomerang dysplasia

AU - Wessels, Marja W.

AU - Den Hollander, Nicolette S.

AU - De Krijger, Ronald R.

AU - Bonifé, Luisa

AU - Superti-Furga, Andrea

AU - Nikkels, Peter G.

AU - Willems, Patrick J.

PY - 2003/10/1

Y1 - 2003/10/1

N2 - Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound.

AB - Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound.

KW - Atelosteogenesis

KW - Boomerang dysplasia

KW - Dwarfism

KW - Lethal chondrodysplasia

KW - Piepkorn dysplasia

KW - Prenatal diagnosis

KW - Ultrasound

UR - http://www.scopus.com/inward/record.url?scp=0141680208&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.20239

DO - 10.1002/ajmg.a.20239

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AN - SCOPUS:0141680208

SN - 1552-4825

VL - 122 A

SP - 148

EP - 154

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 2

ER -

Prenatal diagnosis of boomerang dysplasia

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