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Anterior segment dysgenesis in a child with factor VII deficiency

PURPOSE: To describe the first case of anterior segment dysgenesis associated with factor VII congenital deficit (hypoproconvertinemia). METHOD: A 2-month-old child with factor VII deficiency was referred to our clinic because of corneal opacities. The child was born to consanguineous parents and se...

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Autores principales: Beby, Francis, Meunier, Sandrine, Cochat, Pierre, Roche, Olivier, Aptel, Florent, Burillon, Carole, Denis, Philippe
Formato: Texto
Lenguaje:English
Publicado: Dove Medical Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701121/
https://www.ncbi.nlm.nih.gov/pubmed/19668491
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author Beby, Francis
Meunier, Sandrine
Cochat, Pierre
Roche, Olivier
Aptel, Florent
Burillon, Carole
Denis, Philippe
author_facet Beby, Francis
Meunier, Sandrine
Cochat, Pierre
Roche, Olivier
Aptel, Florent
Burillon, Carole
Denis, Philippe
author_sort Beby, Francis
collection PubMed
description PURPOSE: To describe the first case of anterior segment dysgenesis associated with factor VII congenital deficit (hypoproconvertinemia). METHOD: A 2-month-old child with factor VII deficiency was referred to our clinic because of corneal opacities. The child was born to consanguineous parents and severe factor VII deficiency was diagnosed on the third day of life because of gastrointestinal bleeding. RESULT: Ocular examination under anesthesia showed bilateral corneal opacities with adherent iris strands and peripheral anterior synechiae. The intra-ocular pressure was normal in both eyes and there were neither signs of cataracts nor glaucomatous optic nerve damage. CONCLUSION: This observation provide new information on the possible ocular findings in patients with hypoproconvertinemia. Based on this report, we suggest that careful coagulation screening should be considered in children who possess idiopathic anterior segment dysgenesis aiming at identifying the possible coagulation disorder.
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spelling pubmed-27011212009-08-10 Anterior segment dysgenesis in a child with factor VII deficiency Beby, Francis Meunier, Sandrine Cochat, Pierre Roche, Olivier Aptel, Florent Burillon, Carole Denis, Philippe Clin Ophthalmol Case Report PURPOSE: To describe the first case of anterior segment dysgenesis associated with factor VII congenital deficit (hypoproconvertinemia). METHOD: A 2-month-old child with factor VII deficiency was referred to our clinic because of corneal opacities. The child was born to consanguineous parents and severe factor VII deficiency was diagnosed on the third day of life because of gastrointestinal bleeding. RESULT: Ocular examination under anesthesia showed bilateral corneal opacities with adherent iris strands and peripheral anterior synechiae. The intra-ocular pressure was normal in both eyes and there were neither signs of cataracts nor glaucomatous optic nerve damage. CONCLUSION: This observation provide new information on the possible ocular findings in patients with hypoproconvertinemia. Based on this report, we suggest that careful coagulation screening should be considered in children who possess idiopathic anterior segment dysgenesis aiming at identifying the possible coagulation disorder. Dove Medical Press 2007-09 /pmc/articles/PMC2701121/ /pubmed/19668491 Text en © 2007 Dove Medical Press Limited. All rights reserved
spellingShingle Case Report
Beby, Francis
Meunier, Sandrine
Cochat, Pierre
Roche, Olivier
Aptel, Florent
Burillon, Carole
Denis, Philippe
Anterior segment dysgenesis in a child with factor VII deficiency
title Anterior segment dysgenesis in a child with factor VII deficiency
title_full Anterior segment dysgenesis in a child with factor VII deficiency
title_fullStr Anterior segment dysgenesis in a child with factor VII deficiency
title_full_unstemmed Anterior segment dysgenesis in a child with factor VII deficiency
title_short Anterior segment dysgenesis in a child with factor VII deficiency
title_sort anterior segment dysgenesis in a child with factor vii deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701121/
https://www.ncbi.nlm.nih.gov/pubmed/19668491
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