Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.
Muenke syndrome is a nonsyndromic coronal craniosynostosis, characterised by clinical and radiological variability, with occurrence of both familial and sporadic cases. Pro250Arg (P250R) is a pathogenic mutation, causing this highly clinically heterogeneous syndrome reported worldwide irrespective of race and ethnicity. The authors describe three Indian cases in two different families showing phenotypic spectrum of the disease, which was later confirmed by genetic testing.
Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
Ankur
A
Singh
Manisha
M
Goyal
Somesh
S
Kumar
Wolfram
W
Kress
Seema
S
Kapoor
D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3