Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three‐dimensional ultrasound | Zendy

Holden Simon | Zendy; Ahuja Sapna | Zendy; OgilvyStuart Amanda | Zendy; Firth Helen V. | Zendy; Lees Christoph | Zendy

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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.

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