RT Journal Article
SR Electronic
T1 Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <em>FGFR3-</em>Related Skeletal Dysplasias
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 380
OP 384
DO 10.3174/ajnr.A5468
VO 39
IS 2
A1 Manikkam, S.A.
A1 Chetcuti, K.
A1 Howell, K.B.
A1 Savarirayan, R.
A1 Fink, A.M.
A1 Mandelstam, S.A.
YR 2018
UL http://www.ajnr.org/content/39/2/380.abstract
AB SUMMARY: Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the fibroblast growth factor receptor 3 (FGFR3) group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. All children demonstrated a deep transverse temporal sulcus on MR imaging. Further common neuroimaging findings were incomplete hippocampal rotation (12 children), oversulcation of the mesial temporal lobe (11 children), loss of gray-white matter differentiation of the mesial temporal lobe (5 children), and a triangular shape of the temporal horn (6 children). These appearances are very similar to those described in hypochondroplasia, strengthening the association of temporal lobe malformations in FGFR3-associated skeletal dysplasias.FGFR3fibroblast growth factor receptor 3