| Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. | |
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MedLine Citation:
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PMID: 18257094 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a 5-year-old boy with spondylocarpotarsal synostosis (SCT) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild facial dysmorphisms. Radiographs showed abnormal segmentation of the spine with block vertebrae and carpal synostosis. In addition to the typical phenotype of SCT syndrome, he showed pronounced delay of carpal bone age and bilateral epiphyseal dysplasia of the proximal femora. The patient's father has mild short stature and unilateral hip dysplasia. Molecular studies of the filamin B gene (FLNB) revealed a homozygous mutation in the index patient while both parents were heterozygous for the mutation. In this report we expand the phenotype of SCT syndrome in a patient with a causal FLNB mutation. |
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Authors:
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Diana Mitter; Deborah Krakow; Claire Farrington-Rock; Peter Meinecke |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-03-03 Completed Date: 2008-04-16 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 779-83 Citation Subset: IM |
Copyright Information:
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(c) 2008 Wiley-Liss, Inc. |
Affiliation:
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Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. diana.mitter@uni-due.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Bone and Bones / abnormalities Child Contractile Proteins / genetics Fathers* Growth Disorders / etiology, genetics* Heterozygote* Humans Inheritance Patterns Male Microfilament Proteins / genetics Phenotype Spine / abnormalities* Syndrome Synostosis / complications*, genetics* |
| Chemical | |
Reg. No./Substance:
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0/Contractile Proteins; 0/Microfilament Proteins; 0/filamins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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