PT  - JOURNAL ARTICLE
AU  - Manikkam, S.A.
AU  - Chetcuti, K.
AU  - Howell, K.B.
AU  - Savarirayan, R.
AU  - Fink, A.M.
AU  - Mandelstam, S.A.
TI  - Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <em>FGFR3-</em>Related Skeletal Dysplasias
AID  - 10.3174/ajnr.A5468
DP  - 2018 Feb 01
TA  - American Journal of Neuroradiology
PG  - 380--384
VI  - 39
IP  - 2
4099  - http://www.ajnr.org/content/39/2/380.short
4100  - http://www.ajnr.org/content/39/2/380.full
SO  - Am. J. Neuroradiol.2018 Feb 01; 39
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