Results 31 to 40 of about 77,663 (151)
Harlequin fetus ile ani bebek ölümü sendromu birlikteliği [PDF]
The harlequin fetus, a severe variant of ichthyosis, occurs rarely, and these babies die within the first few days of life. Early retinoid therapy may improve the disorder and help increase survival rates.
Akkuş, Murat +3 more
core +1 more source
Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review. [PDF]
Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded.
Bahashwan E +3 more
europepmc +2 more sources
Harlequin fetus: a case report
Harlequin fetus is the most severe form of congenital ichthyosis with the incidence of one in 300,000 births. An autosomal recessive pattern of inheritance is seen mostly. This disorder has ominous prognosis invariably. We report here a case of harlequin
Muhammad Faheem Afzal +2 more
core +1 more source
“Harlequin fetus” (hyperkeratosis congenitalis) [PDF]
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openaire +1 more source
Characteristic Morphologic Abnormality of Harlequin Ichthyosis Detected in Amniotic Fluid Cells [PDF]
We have examined cells from amniotic fluid obtained at 17 and 21 weeks' gestation and fetal skin biopsy samples from a fetus at risk of harlequin ichthyosis by light and electron microscopy.
Otto, Carl E. +4 more
core +1 more source
Newborn with Harlequin Ichthyosis and the Nursing Care [PDF]
Harlequin ichthyosis is the severest form of non-bullous ichthyosis, which is quite uncommon in newborns, and is usually characterized by fatal extreme keratinization of the skin.
Torun, Serap +3 more
core +1 more source
Head and Neck Clinical Signs Associated With Diseases: A Scoping Review
ABSTRACT Objective Clinical signs observed during head and neck examination offer important diagnostic clues. This scoping review aimed to identify key clinical signs in this region associated with diseases and syndromes and to map them according to their location. Methods An electronic literature search was performed in five databases (Embase, LILACS,
Helena Miguel Cotter +8 more
wiley +1 more source
Harlequin ichtyosis (harlequin fetus): case description
Harlequin ichtyosis was observed at a girl, who managed to survive till 4 months age. Results of postmortem examination were presented. Diagnostic criteria were described, issues of prenatal diagnostics and treatment opportunities are being discussed.
A N BELIKOV +3 more
openaire +2 more sources
Idiopathic Harlequin syndrome – case report
Introduction. Harlequin syndrome is a very rare neurological condition characterized by redness and excessive sweating of one half of the face in response to exercise and emotions. In most cases this disorder is not life-threatening. Objective.
Agata Pakla-Misiur +2 more
core +1 more source

