| Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems. | |
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MedLine Citation:
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PMID: 20362700 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in addition a partial cutaneous syndactyly between the third and fourth fingers, an increased distance between second and third finger, and a decreased smell. We have not been unable to find other patients described in literature with the same combination of features, and suggest this to represent a hitherto unrecognizable entity. Pattern of inheritance is likely to be autosomal dominant. |
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Authors:
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Elga F Belligni; Raoul C M Hennekam |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-04-01 |
Journal Detail:
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Title: European journal of medical genetics Volume: 53 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2010 Jul-Aug |
Date Detail:
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Created Date: 2010-07-12 Completed Date: 2010-10-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 192-6 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Department of Pediatrics, University of Torino, Torino, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Blepharoptosis / genetics*, pathology Child Child, Preschool Ear / abnormalities*, pathology Family Female Genetic Predisposition to Disease* Hand Deformities / genetics*, pathology Humans Infant, Newborn Learning Disorders / genetics*, pathology Male Middle Aged Pedigree Prognosis Speech Disorders / genetics*, pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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