| Fryns anophthalmia-plus syndrome in an 18 week old fetus. | |
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MedLine Citation:
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PMID: 21675878 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract Fryns anophthalmia-plus syndrome (APS) is a very rare condition initially described by Fryns et al. 1995 in a pair of siblings of non-consanguineous parents. Since then only few cases have been reported, most of them in newborns and young children. Clinical presentation is variable including anophthalmia/microphthalmia, cleft lip/palate and other facial deformities. Furthermore, skeletal, CNS and endocrine anomalies have been described.We contribute the case of a male fetus of 18 weeks of gestation with normal karyotype and findings matching Fryns APS. Pregnancy was terminated because of sonographically proven facial midline defects and a marked cerebral ventriculomegaly. Macroscopic and histological findings obtained at autopsy showed extreme bilateral microphthalmia, unilateral cleft palate, unilateral nasal deformity and low-set ears. Skeletal anomalies included 13 pairs of ribs, premature ossification of the calcaneus and talipes. |
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Authors:
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Caren Jayasinghe; Ulrich Gembruch; Klaus Kuchelmeister; Friederike Körber; Annette M Müller |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-15 |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: - ISSN: 1093-5266 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-6-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1 University of Bonn. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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