Harlequin ichthyosis in a neonate born with assisted reproductive technology: a case report.

[harlequin ichthyosis]

Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis . Although prenatal diagnosis isdifficult for this disorder , recently , this obstacle has markedly improved with the use of DNA-based prenataldiagnosis . Here in , we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART ). In this case , the diagnosis of harlequin ichthyosis was not established by conventional prenatal screening .

Diseases
Validation

Diseases presenting "severe form" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

canavan disease

child syndrome

congenital adrenal hyperplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

inclusion body myositis

kindler syndrome

lamellar ichthyosis

legionellosis

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

neuralgic amyotrophy

papillon-lefèvre syndrome

zellweger syndrome

You can validate or delete this automatically detected symptom