Skip to search formSkip to main contentSkip to account menu

Harlequin Fetus

Known as: Syndrome, Harlequin Baby, HI, Ichthyosis, Harlequin 
A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the… 
National Institutes of Health

Related topics

Related topics

8 relations
Congenital AbnormalityCongenital Nonbullous Ichthyosiform ErythrodermaHarlequin type ichthyosisHereditary Diseases

Broader (1)

Congenital ichthyosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Variation in founder groups promotes establishment success in the wild
Environmental changes currently pose severe threats to biodiversity, and reintroductions and translocations are increasingly used… 
2009
2009
Harlequin Duck ( Histrionicus histrionicus )
2004
2004
Dose-response relationships of harlequin duck behaviour to noise from low-level military jet over-flights in central Labrador
Concern for the lack of field studies on the effects of low-level military jet over-flights on wildlife resulted in directed… 
Highly Cited
2003
Highly Cited
2003
Diagnostic Outcome of Methods Frequently Used for Caries Validation
The aim of this study was to compare the caries diagnostic outcome of four methods frequently used as validation for dental… 
2002
2002
Molecular phylogeny of the snubnose darters, subgenus Ulocentra (genus Etheostoma, family Percidae).
Snubnose darters comprise one of the largest subgenera of the percid genus Etheostoma. Many species are described based on… 
Highly Cited
1996
Highly Cited
1996
A longitudinal study of a harlequin infant presenting clinicallyas non‐bullous congenital ichthyosiform erythroderma
Over the past 8 years, we have followed a child born as a harlequin baby, who survived due to treatment with retinoids. His… 
1992
1992
Harlequin fetus with abnormal lamellar granules and giant mitochondria
A case of harlequin ichthyosis was studied with electron microscopy From the basal cell to granular cell layers, keratinocytes… 
1982
1982
Keratinization in the harlequin fetus.
• Studies of keratinization in several harlequin fetuses have shown different abnormalities, suggesting that the disorder may… 
Highly Cited
1979
Highly Cited
1979
Harlequin ichthyosis with epidermal lipid abnormality.
An infant with phenotypic harlequin ichthyosis survived for nine months, then died a crib death. At autopsy, an enlarged, but… 
1970
1970
An abnormality of keratin in the harlequin fetus.
A harlequin fetus was born to unrelated parents with a negative family history for any form of ichthyosis. The child was grossly… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)