A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

G. Baynam; C. Kiraly-Borri; J. Goldblatt; J.E. Dickinson; G.P. Jevon; A. Overkov

doi:10.1002/ajmg.a.33264

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A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

Journal article

Peer reviewed

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

G. Baynam, C. Kiraly-Borri, J. Goldblatt, J.E. Dickinson, G.P. Jevon and A. Overkov

American Journal of Medical Genetics: Part A, Vol.152A(4), pp.966-969

2010

DOI: https://doi.org/10.1002/ajmg.a.33264

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Abstract

We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new sign, the Upsilon sign, to aid in the differential diagnosis of skeletal dysplasias with an extra ossification centre distal to second metacarpal.

Details

Title: A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign
Authors/Creators: G. Baynam (Author/Creator) - King Edward Memorial Hospital
C. Kiraly-Borri (Author/Creator) - Princess Margaret Hospital for Children
J. Goldblatt (Author/Creator) - The University of Western Australia
J.E. Dickinson (Author/Creator) - The University of Western Australia
G.P. Jevon (Author/Creator) - The University of Western Australia
A. Overkov (Author/Creator) - Princess Margaret Hospital for Children
Publication Details: American Journal of Medical Genetics: Part A, Vol.152A(4), pp.966-969
Publisher: Wiley
Identifiers: 991005540982207891
Copyright: © 2010 Wiley-Liss, Inc.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.132 Extracellular Matrix & Cell Differentiation; 1.132.2231 Rare Skeletal Disorders
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics