Prenatal diagnosis of harlequin ichthyosis: a case report
Obstetrics & Gynecology Science
;
: 94-97, 2020.
Article
in English
| WPRIM
| ID: wpr-782204
ABSTRACT
Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive. Prenatal sonographic diagnosis of HI has not been frequently reported. Here, we report a case of HI detected at 28 weeks of gestation and discuss with the sonographic findings and a brief review of literature. The diagnosis was reached mainly based on 2-dimensional and 3-dimensional ultrasound findings. Three-dimensional ultrasound applications help recognize facial morphology, and thus, greatly contributes to prenatal diagnoses.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Skin
/
Wills
/
Adenosine
/
Ultrasonography
/
Ichthyosis, Lamellar
/
Diagnosis
/
Ichthyosis
Type of study:
Diagnostic study
Limits:
Humans
/
Infant, Newborn
/
Pregnancy
Language:
English
Journal:
Obstetrics & Gynecology Science
Year:
2020
Type:
Article
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