Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
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.
Zankl
Andreas
A
Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia. andreas.zankl@gmail.com
Elakis
George
G
Susman
Rachel D
RD
Inglis
Garry
G
Gardener
Glenn
G
Buckley
Michael F
MF
Roscioli
Tony
T
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
D008715:Methionine; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3; D008239:Lysine