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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
Author(s) -
Baynam Gareth,
KiralyBorri Cathy,
Goldblatt Jack,
Dickinson Jan E.,
Jevon Gareth P.,
Overkov Angela
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33264
Subject(s) - sign (mathematics) , dysplasia , phenotype , ossification , medicine , differential diagnosis , pathology , anatomy , biology , genetics , mathematics , gene , mathematical analysis
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. © 2010 Wiley‐Liss, Inc.