| Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome. | |
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MedLine Citation:
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PMID: 20584037 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Peters Plus syndrome is a very rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor anomalies. Mutations in the B3GALTL gene encoding beta 1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report on a female patient with unusually severe manifestations of Peters Plus syndrome, including anterior eye staphyloma, cleft lip and palate, and hypoplastic left heart syndrome (HLHS). Analysis of the B3GALTL gene revealed no mutation in the patient. To our knowledge, HLHS has not previously been reported in Peters Plus syndrome so far, and anterior staphyloma, a most severe defect of the anterior eye chamber, is also apparently rare in the syndrome. Our patient might represent a new syndrome of severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and HLHS. |
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Authors:
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Reiko Shimizu; Ryota Saito; Kenji Hoshino; Kiyoshi Ogawa; Takashi Negishi; Jiro Nishimura; Norimasa Mitsui; Makiko Osawa; Hirofumi Ohashi |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-06-24 |
Journal Detail:
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Title: Congenital anomalies Volume: 50 ISSN: 1741-4520 ISO Abbreviation: Congenit Anom (Kyoto) Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-24 Completed Date: 2010-12-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9306292 Medline TA: Congenit Anom (Kyoto) Country: Japan |
Other Details:
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Languages: eng Pagination: 197-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. rmuto@ped.twmu.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Cornea / abnormalities Fatal Outcome Female Galactosyltransferases / genetics Glucosyltransferases / genetics Growth Disorders / diagnosis Humans Hypoplastic Left Heart Syndrome / diagnosis* Infant, Newborn Limb Deformities, Congenital / diagnosis |
| Chemical | |
Reg. No./Substance:
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EC 2.4.1.-/B3GALTL protein, human; EC 2.4.1.-/Galactosyltransferases; EC 2.4.1.-/Glucosyltransferases; EC 2.4.1.-/beta3Glc-T glucosyltransferase, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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