| An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses. | |
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MedLine Citation:
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PMID: 2080998 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare. It is noteworthy that the first metacarpal bone is not abnormal. This association is delineated from two other "facio-audio-symphalangism" syndromes and from Wildervanck syndrome. Our observation confirms one previous description only by Pierson et al. (1981). |
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Authors:
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R A Pfeiffer; H D Rott; W Angerstein |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 1 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 1990 |
Date Detail:
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Created Date: 1991-05-03 Completed Date: 1991-05-03 Revised Date: 2006-07-06 |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: SWITZERLAND |
Other Details:
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Languages: eng Pagination: 133-40 Citation Subset: IM |
Affiliation:
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Institut für Humangenetik, Erlangen Nürnberg. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Cervical Vertebrae / abnormalities Chromosome Aberrations / genetics* Chromosome Disorders Female Finger Joint / abnormalities* Genes, Dominant / genetics* Hearing Loss, Conductive / genetics* Humans Klippel-Feil Syndrome / genetics* Male Synostosis / genetics* |
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