Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound.
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.
Holden
Simon
S
Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Ahuja
Sapna
S
Ogilvy-Stuart
Amanda
A
Firth
Helen V
HV
Lees
Christoph
C
D017255:Acitretin / Q000627:therapeutic use; D000328:Adult; D001176:Arthrogryposis / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000000981:diagnostic imaging* / Q000188:drug therapy; D007231:Infant, Newborn; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*
D017255:Acitretin