1. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation
- Author
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Andreas Zankl, Garry D T Inglis, Michael F. Buckley, George Elakis, Glenn Gardener, Rachel Susman, and Tony Roscioli
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Thanatophoric dysplasia ,Developmental Disabilities ,Mutation, Missense ,Dwarfism ,Prenatal diagnosis ,Ultrasonography, Prenatal ,Achondroplasia ,Fetus ,Methionine ,Pregnancy ,Internal medicine ,Genetics ,medicine ,Humans ,Receptor, Fibroblast Growth Factor, Type 3 ,Missense mutation ,Acanthosis Nigricans ,SADDAN ,Acanthosis nigricans ,Genetics (clinical) ,business.industry ,Lysine ,Infant, Newborn ,medicine.disease ,Developmental disorder ,Endocrinology ,Amino Acid Substitution ,Genetic defects of metabolism [UMCN 5.1] ,Female ,business ,Functional Neurogenomics [DCN 2] ,Immunity, infection and tissue repair [NCMLS 1] - Abstract
Contains fulltext : 71384.pdf (Publisher’s version ) (Closed access) 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.
- Published
- 2008