| Feingold syndrome: clinical review and genetic mapping. | |
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MedLine Citation:
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PMID: 14518066 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Feingold syndrome is characterized by autosomal dominant inheritance of microcephaly and limb malformations, notably hypoplastic thumbs, and clinodactyly of second and fifth fingers. Syndactyly frequently involves the second and third, as well as the fourth and fifth toes. Approximately one in three Feingold syndrome patients have esophageal or duodenal atresia or both. Anal atresia has been reported in a single case. At least 79 patients in 25 families have been reported. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity. Vertebral anomalies, cardiac malformations, and deafness have been noted in a minority of patients. Here, we report a patient with hydronephrosis of one kidney and cystic dysplasia of the other, necessitating nephrectomy. The overall pattern of malformations in Feingold syndrome shows considerable overlap with the VATER/VACTERL association. The gene for Feingold syndrome maps to 2p23-p24, but remains to be identified. Comparison of the pattern of anomalies that occurs in the Feingold syndrome in humans and malformations that are present in mice with mutations of genes in the sonic hedgehog signaling pathway suggest, that the elusive Feingold syndrome gene may involve this signaling pathway as well. |
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Authors:
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Jacopo Celli; Hans van Bokhoven; Han G Brunner |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 122A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Nov |
Date Detail:
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Created Date: 2003-09-30 Completed Date: 2004-06-03 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: 294-300 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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University Medical Center Nijmegen, Department of Human Genetics, Nijmegen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Mapping* Chromosomes, Human, Pair 2 Hedgehog Proteins Humans Limb Deformities, Congenital / genetics*, physiopathology Microcephaly / genetics*, physiopathology Signal Transduction / physiology Trans-Activators / genetics, physiology |
| Chemical | |
Reg. No./Substance:
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0/Hedgehog Proteins; 0/SHH protein, human; 0/Trans-Activators |
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