| Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. | |
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MedLine Citation:
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PMID: 18076102 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in the literature, confirms the severe morbidity and adds to the reports with early mortality associated with SADDAN. Clinical-radiological characteristics of all reported cases of SADDAN are reviewed and discussed. |
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Authors:
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Andreas Zankl; George Elakis; Rachel D Susman; Garry Inglis; Glenn Gardener; Michael F Buckley; Tony Roscioli |
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 Jan |
Date Detail:
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Created Date: 2007-12-26 Completed Date: 2008-02-25 Revised Date: 2009-11-19 |
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: 212-8 Citation Subset: IM |
Copyright Information:
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(c) 2007 Wiley-Liss, Inc. |
Affiliation:
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Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia. andreas.zankl@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acanthosis Nigricans
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diagnosis*,
genetics Achondroplasia / diagnosis*, genetics Amino Acid Substitution* Developmental Disabilities / diagnosis, genetics Female Fetus / abnormalities Humans Infant, Newborn Lysine / genetics Male Methionine / genetics Mutation, Missense Pregnancy Receptor, Fibroblast Growth Factor, Type 3 / genetics* Ultrasonography, Prenatal |
| Chemical | |
Reg. No./Substance:
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56-87-1/Lysine; 63-68-3/Methionine; EC 2.7.1.112/FGFR3 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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