| MRI findings in macrocephaly-cutis marmorata telangiectatica congenita. | |
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MedLine Citation:
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PMID: 9511980 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly is accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari I), lumbar syrinx, and hydrops of the optic nerves. The report of this additional patient further confirms the newly described macrocephaly-cutis marmorata telangiectatica congenita as a distinct clinical phenotype. |
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Authors:
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M Carcao; S I Blaser; R M Grant; R Weksberg; J Siegel-Bartelt |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 76 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Mar |
Date Detail:
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Created Date: 1998-05-14 Completed Date: 1998-05-14 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 165-7 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
pathology Birth Weight Brain / abnormalities Craniofacial Abnormalities / diagnosis*, pathology Fetal Macrosomia / complications Humans Infant Magnetic Resonance Imaging Male Syndrome Telangiectasis / diagnosis, pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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