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Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three‐dimensional ultrasound
Author(s) -
Holden Simon,
Ahuja Sapna,
OgilvyStuart Amanda,
Firth Helen V.,
Lees Christoph
Publication year - 2007
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1727
Subject(s) - arthrogryposis , medicine , differential diagnosis , ultrasound , prenatal diagnosis , prenatal ultrasound , muscle contracture , dermatology , pregnancy , anatomy , fetus , radiology , pathology , biology , genetics
We describe a case of Harlequin Icthyosis where the main 2D and 3D ultrasound findings were digital contractures as opposed to the more commonly described severe facial dysmorphisms. A prenatal finding of distal arthrogryposis can therefore include harlequin icthyosis as a differential diagnosis, where 3D ultrasound may then disclose the facial features more commonly associated with the condition. Copyright © 2007 John Wiley & Sons, Ltd.