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Lethal arthrogryposis with icthyosis: overlap with Neu–Laxova syndrome, restrictive dermopathy and harlequin fetus

Thakur, Seemaa; Pal, Lilyb; Phadke, Shubha R.a


We describe a stillborn female with joint contractures, subcutaneous oedema, ectropion, a severely flattened nose, an ‘O’ shaped open mouth and extensive peeling of skin. The head circumference was normal. She was born at 33 weeks of gestation to consanguineous parents, who had one previous offspring affected with non-immune hydrops fetalis. Pathological, radiological and prenatal findings are reported. The features of the present case are compared with those of Neu–Laxova syndrome, &!QJ;restrictive dermopathy and harlequin fetus.

aDepartment of Medical Genetics

bDepartment of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Correspondence and requests for reprints to Dr Shubha R Phadke, Associate Professor, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India

Fax: +91-522-2668017; e-mail:

Received 16 June 2003 Accepted 16 December 2003

© 2004 Lippincott Williams & Wilkins, Inc.