منابع مشابه
Harlequin ichthyosis (or harlequin fetus)
The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertic...
متن کاملSuccessful treatment of a harlequin fetus.
We report the prolonged survival of a harlequin fetus who was treated with intensive supportive measures, emollients, and oral etretinate.
متن کاملگزارش 2 مورد جنین دلقکی(Harlequin Fetus) در 1 خانواده
Harlequin Ichthyosis (HI) describes a severe erythrodermic ichthyosis and causes a distinctive and grotesque appearance at birth. Survival is now possible therefore, harlequin ichthyosis is a more appropriate term than harlequin fetus. Incidence is 1 in 300,000 births. An autosomal recessive pattern of inheritance is seen in this disorder, but a new autosomal dominant mutation may possibly ...
متن کاملIchthyosis congenita, harlequin fetus type: a case report.
Ichthyosis is a very heterogeneous family of skin disorders with harlequin ichthyosis being the most severe genetic form. It is a rare autosomal recessive condition, characterized by dry, severely thickened skin with large plates of hyperkeratotic scale, separated by deep fissures. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long,...
متن کاملگزارش ۲ مورد جنین دلقکی(harlequin fetus) در ۱ خانواده
(h.i)harlequin ichthyosis یک فرم شدید ایکتیوز اریترودرمیک است که موجب می شود تا نوزاد ظاهر عجیب و منحصر به فردی در زمان تولد داشته باشد. ظاهر پوست و ماهیت کشنده بیماری سبب شده است تا تحت عنوان جنین دلقکی ( harlequin fetus ) نام گذاری شود اما از آن جا که امروزه بقای برخی از مبتلایان امکان پذیر است عنوان h.i مناسب تر به نظر می رسد. شیوع بیماری 1 در 300000 مورد ذکر شده و الگوی وارثتی آن اتوزوم مغل...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 1996
ISSN: 0021-7557
DOI: 10.2223/jped.615