| Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? | |
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MedLine Citation:
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PMID: 8281271 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The association of congenital cataracts, microphthalmia and heart disease is well recognized in fetal rubella, but genetic causes are comparatively rare and recurrence risks are usually low. We describe a woman with an atrial septal defect, bilateral congenital cataracts, unilateral microphthalmia and minor dysmorphic features, originally attributed to an unidentified infection in utero, whose daughter has a similar constellation of heart, eye and facial abnormalities. This may represent a new dominantly inherited syndrome. |
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Authors:
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A O Wilkie; D Taylor; P J Scambler; M Baraitser |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 2 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1994-02-17 Completed Date: 1994-02-17 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 114-9 Citation Subset: IM |
Affiliation:
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Department of Paediatric Genetics, Hospital for Sick Children, London, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Cataract / congenital* Face / abnormalities Female Heart Septal Defects / genetics* Humans Infant Microphthalmos / genetics* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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