نتایج جستجو برای: harlequin fetus
تعداد نتایج: 26697 فیلتر نتایج به سال:
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 ...
it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...
Severe congenital skin abnormalities are a rare event. This case is unique in that it is a case of harlequin ichthyosis in sub-sahara Africa in a child of African origin and elaborates the challenges faced in its management. We present a neonate who was managed for this condition at Chogoria Mission Hospital. In presenting this case, we aim to sensitise healthcare providers to promptly recognis...
Harlequin Ichthyosis is a dermal disorder that always lead to an early death after birth. Although the clinical characteristics of this disorder has been described perfectly but the molecular basis of which isn’t clear well. Harlequin fetus is an Autosomal recessive trait and prenatal diagnosis is possible by embryo skin biopsy after fetoscopy. This case was a male newborn who died 4 days after...
We used capture-mark-recapture data to assess winter philopatry by Harlequin Ducks (Histrionicus histrionicus) in Prince William Sound, Alaska, during winters 1995–1997 and 2000–2001. Philopatry was quantified using homing rates, which were estimated as the proportion of birds recaptured at their original site out of all recaptured birds. Between-year homing rates of 0.95 (95% CI: 0.87–1.00) an...
In the preceding paper (paper I), we presented HI absorption spectra towards radio sources very close to the lines of sight towards 25 bright stars against which optical absorption spectra had been obtained earlier. In this paper we analyse the results and draw some conclusions. To summarize briefly, in most cases we found HI absorption at velocities corresponding to the optical absorption feat...
CMAJ • NOVEMBER 23, 2010 • 182(17) © 2010 Canadian Medical Association or its licensors E801 Ahealthy girl was born at term after an uncomplicated pregnancy and delivery. When she was five days old, unilateral erythema with contralateral pallor developed that was strikingly demarcated at midline (Figure 1). This phenomenon occurred after the infant had been placed on her right side, with the er...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید