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

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

11 Citations (Scopus)

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.

Original language	English
Pages (from-to)	148-154
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	122 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.20239
Publication status	Published - 1 Oct 2003
Externally published	Yes

Keywords

Atelosteogenesis
Boomerang dysplasia
Dwarfism
Lethal chondrodysplasia
Piepkorn dysplasia
Prenatal diagnosis
Ultrasound

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10.1002/ajmg.a.20239

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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",

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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

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DO - 10.1002/ajmg.a.20239

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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

Abstract

Keywords

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