关键词: autosomal dominant harlequin fetus harlequin ichthyosis

来  源:   DOI:10.1002/ccr3.6389   PDF(Pubmed)

Abstract:
Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally. We report a harlequin fetus with a history of scalp psoriasis in his mother. The neonate was born to consanguineous parents who had a previous female baby that was diagnosed with harlequin ichthyosis.
摘要:
丑角鱼鳞病是一种罕见的常染色体隐性先天性鱼鳞病,具有明显的表型外观。它与高死亡率相关,对两性都有同样的影响。我们报告了他母亲有头皮牛皮癣病史的丑角胎儿。新生儿出生于近亲的父母,他们以前的女婴被诊断患有丑角鱼鳞病。
公众号