A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign
Baynam, G., Kiraly-Borri, C., Goldblatt, J., Dickinson, J.E., Jevon, G.P. and Overkov, A. (2010) A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign. American Journal of Medical Genetics: Part A, 152A (4). pp. 966-969.
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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.
|Publication Type:||Journal Article|
|Copyright:||© 2010 Wiley-Liss, Inc.|
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