title: Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
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.
authors: Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia. andreas.zankl@gmail.com
authors: Andreas
authors: A
authors: Zankl
authors: George
authors: G
authors: Elakis
authors: Rachel D
authors: RD
authors: Susman
authors: Garry
authors: G
authors: Inglis
authors: Glenn
authors: G
authors: Gardener
authors: Michael F
authors: MF
authors: Buckley
authors: Tony
authors: T
authors: Roscioli
mesh_terms: D000052:Acanthosis Nigricans / Q000175:diagnosis* / Q000235:genetics; D000130:Achondroplasia / Q000175:diagnosis* / Q000235:genetics; D019943:Amino Acid Substitution; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008239:Lysine / Q000235:genetics; D008297:Male; D008715:Methionine / Q000235:genetics; D020125:Mutation, Missense; D011247:Pregnancy; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: D008715:Methionine; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3; D008239:Lysine