Results 111 to 120 of about 19,609 (184)
Prenatal diagnosis and ultrasound features of Harlequin Ichthyosis
, 2018 A 30-year-old lady in her first pregnancy was referred for flattened facial profile with suspected thickening of skin on prenatal scan. Anomaly scan at 20 weeks was normal.
Shu, W, Hui, PW, Seto, TYM, Lee, C
core
, 2017 A severe variety of ichthyosis fetalis or Harlequin fetus is reported with a brief review of the literature. It seemed that our case, Tadjuddin's (Jakarta), and Wong Hock Boon's (Singapore) assure us that the Harlequin fetus can also be seen in the ...
Helena Siregar +2 more
core +1 more source
Indian Journal of Paediatric DermatologyObjective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta +4 more
doaj +1 more source
Recurrent Case of a Rare and Devastating Entity: Harlequin Ichthyosis
, 2019 Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis caused by truncating mutations in the ABCA12 gene. Although it has many distinctive signs on perinatal sonography such as short limbs, wide gaping mouth, joint contractures ...
Alkılıç, Ayşegül +2 more
core +1 more source
Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
, 1997 The harlequin ichthyosis (ichq) mouse mutation arose spontaneously in 1989 in a colony of BALB/cJ mice at The Jackson Laboratory. Affected mice developed thick skin due to formation of compact, orthokeratotic scales that fractured over articular ...
Boggess, D +8 more
core +1 more source
An Update and Report Failure of Surgical Syndactyly Repair in Harlequin Ichthyosis. [PDF]
Plast Reconstr Surg Glob Open, 2022 Kahan EH, Temple B, Carr L, Zellner E.
europepmc +1 more source
Collodion Baby with TGM1 gene mutation
International Medical Case Reports Journal, 2015 Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D +4 more
doaj
Harlequin Ichthyosis – A Case Report
, 2017 Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in
Das, A, Ugezu, C H, Mazumdar, A, Dunn, E
core
Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia. [PDF]
Cureus, 2022 Shahada O, Kurdi A, Al Ahmadi D.
europepmc +1 more source
Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report. [PDF]
Ann Transl Med, 2021 Zhou XJ +4 more
europepmc +1 more source