Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias

被引：23
作者：
Manikkam, S. A. [1 ]
Chetcuti, K. [3 ]
Howell, K. B. [2 ,4 ,6 ]
Savarirayan, R. [6 ,7 ]
Fink, A. M. [1 ,5 ,6 ]
Mandelstam, S. A. [1 ,4 ,5 ,6 ,8 ]
机构：
[1] Royal Childrens Hosp, Dept Med Imaging, Melbourne, Vic, Australia
[2] Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia
[3] Alder Hey Childrens Hosp, Dept Radiol, Liverpool, Merseyside, England
[4] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
[5] Univ Melbourne, Dept Radiol, Melbourne, Vic, Australia
[6] Murdoch Childrens Res Inst, Melbourne, Vic, Australia
[7] Victorian Clin Genet Serv, Melbourne, Vic, Australia
[8] Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia
来源：
AMERICAN JOURNAL OF NEURORADIOLOGY | 2018年 / 39卷 / 02期
关键词：
THANATOPHORIC DYSPLASIA; MRI FINDINGS; FETAL-BRAIN; MUTATIONS; CHILDREN; HYPOCHONDROPLASIA; ABNORMALITIES; ULTRASOUND; FEATURES; FGFR3;
D O I：
10.3174/ajnr.A5468
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
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收藏
页码：380 / 384
页数：5
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