Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus.
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, restrictive dermopathy and harlequin fetus.
Thakur
Seema
S
Department of Medical Genetics Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Pal
Lily
L
Phadke
Shubha R
SR
D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004483:Ectropion / Q000473:pathology; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D006831:Polyhydramnios / Q000000981:diagnostic imaging / Q000473:pathology; D011247:Pregnancy; D011256:Pregnancy Outcome; D011263:Pregnancy Trimester, Third; D014463:Ultrasonography