| Prenatal sonographic features of Harlequin ichthyosis. | |
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MedLine Citation:
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PMID: 12673476 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder. |
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Authors:
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C Berg; A Geipel; M Kohl; M Krokowski; A A Baschat; U Germer; U Gembruch |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2002-07-06 |
Journal Detail:
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Title: Archives of gynecology and obstetrics Volume: 268 ISSN: 0932-0067 ISO Abbreviation: Arch. Gynecol. Obstet. Publication Date: 2003 Apr |
Date Detail:
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Created Date: 2003-04-03 Completed Date: 2003-09-30 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 8710213 Medline TA: Arch Gynecol Obstet Country: Germany |
Other Details:
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Languages: eng Pagination: 48-51 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, Medical University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. christophberg@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Fatal Outcome Female Humans Ichthyosis / ultrasonography* Pregnancy Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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