Prenatal diagnosis of harlequin ichthyosis: a case report
Obstetrics & Gynecology Science
;
: 94-97, 2020.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Piel
/
Testamentos
/
Adenosina
/
Ultrasonografía
/
Ictiosis Lamelar
/
Diagnóstico
/
Ictiosis
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Recién Nacido
/
Embarazo
Idioma:
Inglés
Revista:
Obstetrics & Gynecology Science
Año:
2020
Tipo del documento:
Artículo
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