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Am J Med Genet A. 2008 Jan 15;146A(2):212-8.

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

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  • 1Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia. andreas.zankl@gmail.com

Abstract

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.

(c) 2007 Wiley-Liss, Inc.

PMID:
18076102
[PubMed - indexed for MEDLINE]
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