| Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. | |
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MedLine Citation:
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PMID: 15840155 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations. METHODS: We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype. RESULTS: In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease. Subsequent molecular testing confirmed the diagnosis. In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS. CONCLUSIONS: Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents. In general, paediatricians should refer both parents of infants who are suspected of having an inherited condition to clinical geneticists for expert examination, given the potential unreliability of reported medical history. |
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Authors:
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L Pastorino; R Cusano; C Baldo; F Forzano; S Nasti; M Di Rocco; M Carta; F Dagna Bricarelli; F Faravelli; G Bianchi Scarrà |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Child: care, health and development Volume: 31 ISSN: 0305-1862 ISO Abbreviation: Child Care Health Dev Publication Date: 2005 May |
Date Detail:
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Created Date: 2005-04-20 Completed Date: 2005-07-07 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 7602632 Medline TA: Child Care Health Dev Country: England |
Other Details:
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Languages: eng Pagination: 351-4 Citation Subset: IM |
Affiliation:
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Department of Oncology, Biology and Genetics, University of Genova, Genova, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Basal Cell Nevus Syndrome
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diagnosis*,
genetics Codon, Nonsense Family Health Fathers Humans Infant Male Phenotype |
| Grant Support | |
ID/Acronym/Agency:
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GTF04003//Telethon |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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