Homozygous N540K hypochondroplasia--first report: radiological and clinical features.
We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH.
Servicio de Genética Médica, Hospital J.P. Garrahan, Buenos Aires, Argentina.
M Laura Garcia
ML
De Rosa
Virginia
V
Fano
H Verónica
HV
Araoz
Lilien
L
Chertkoff
M Gabriela
MG
Obregon
D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D001921:Brain / Q000473:pathology; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D056726:Genetic Association Studies; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008141:Lordosis / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
D051498:Receptor, Fibroblast Growth Factor, Type 3
achondroplasia; homozygosity; hypochondroplasia; phenotypic overlap