Prenatal diagnosis of harlequin ichthyosis: a case report
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 inherit...
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| Format: | Book |
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Korean Society of Obstetrics and Gynecology,
2020-01-01T00:00:00Z.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_feac27c7d7744418b5fb16a91c685c91 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Mudunuri Vijayakumari |e author |
| 700 | 1 | 0 | |a Desai. Kamalakar Reddy |e author |
| 700 | 1 | 0 | |a Madhavilatha Routhu |e author |
| 700 | 1 | 0 | |a Manasvi Vuchuru |e author |
| 700 | 1 | 0 | |a Nallamilli Sunitha Reddy |e author |
| 245 | 0 | 0 | |a Prenatal diagnosis of harlequin ichthyosis: a case report |
| 260 | |b Korean Society of Obstetrics and Gynecology, |c 2020-01-01T00:00:00Z. | ||
| 500 | |a 2287-8572 | ||
| 500 | |a 2287-8580 | ||
| 500 | |a 10.5468/ogs.2020.63.1.94 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 546 | |a KO | ||
| 690 | |a harlequin ichthyosis | ||
| 690 | |a neonates | ||
| 690 | |a keratinizing disorder | ||
| 690 | |a prenatal diagnosis | ||
| 690 | |a Gynecology and obstetrics | ||
| 690 | |a RG1-991 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Obstetrics & Gynecology Science, Vol 63, Iss 1, Pp 94-97 (2020) | |
| 787 | 0 | |n http://ogscience.org/upload/pdf/ogs-63-94.pdf | |
| 787 | 0 | |n https://doaj.org/toc/2287-8572 | |
| 787 | 0 | |n https://doaj.org/toc/2287-8580 | |
| 856 | 4 | 1 | |u https://doaj.org/article/feac27c7d7744418b5fb16a91c685c91 |z Connect to this object online. |