| Holt-Oram syndrome: a clinical genetic study. | |
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MedLine Citation:
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PMID: 8730285 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal defects affected the upper limbs exclusively and were bilateral and asymmetrical. They ranged from minor signs such as clinodactyly, limited supination, and sloping shoulders to severe reduction deformities of the upper arm (4.5%). The radial ray was predominantly affected than the right. All affected cases showed evidence of upper limb involvement. Cardiac defects were seen in 95% of familial cases and included both atrial septal defect (ASD, 34%) and ventricular septal defect (VSD, 25%); 39% had only ECG changes. Cardiac involvement ranged from asymptomatic conduction disturbances to multiple structural defects requiring surgery in infancy. Sudden death could be caused by heart block. Inheritance was autosomal dominant with 100% penetrance and no evidence of reduced fitness. Increasing severity occurred in succeeding generations consistent with anticipation. |
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Authors:
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R A Newbury-Ecob; R Leanage; J A Raeburn; I D Young |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of medical genetics Volume: 33 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1996 Apr |
Date Detail:
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Created Date: 1996-09-25 Completed Date: 1996-09-25 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 300-7 Citation Subset: IM |
Affiliation:
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Centre for Medical Genetics, City Hospital, Nottingham, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Aged Arm / abnormalities Child Child, Preschool Electrocardiography Female Genes, Dominant Hand Deformities, Congenital / genetics* Heart Defects, Congenital / genetics* Humans Infant Linkage (Genetics) Male Middle Aged Pedigree Phenotype Radius / abnormalities, pathology Shoulder / abnormalities Syndrome Thumb / abnormalities |
| Comments/Corrections | |
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