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Start Over Author "Kiraly-Borri C" Journal american journal of medical genetics part a

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1 results on '"Kiraly-Borri C"'

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

Author

Baynam G, Kiraly-Borri C, Goldblatt J, Dickinson JE, Jevon GP, and Overkov A

Subjects
Adult, Epiphyses pathology, Female, Fetus abnormalities, Fetus pathology, Humans, Male, Postmortem Changes, Pregnancy, Recurrence, Ultrasonography, Prenatal, Bone Diseases, Developmental complications, Bone Diseases, Developmental diagnostic imaging, Edema complications, Edema diagnostic imaging
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., ((c) 2010 Wiley-Liss, Inc.)

Published
2010
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