Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case
Background: Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation: We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion: Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case ; volume:8 ; number:2 ; year:2019 ; extent:5
Case reports in perinatal medicine ; 8, Heft 2 (2019) (gesamt 5)
- Urheber
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Garofalo, Giulia
Cassart, Marie
Désir, Julie
Thomas, Dominique
- DOI
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10.1515/crpm-2018-0048
- URN
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urn:nbn:de:101:1-2411121552329.996590631286
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:37 MESZ
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Beteiligte
- Garofalo, Giulia
- Cassart, Marie
- Désir, Julie
- Thomas, Dominique
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