From the Departments of Medical Imaging (S.A. Manikkam, A.M.F., S.A. Mandelstam)
Department of Radiology (K.C.), Alder Hey Children's Hospital, Liverpool, UK.
AJNR Am J Neuroradiol. 2018 Feb;39(2):380-384. doi: 10.3174/ajnr.A5468. Epub 2017 Nov 23.
Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the () 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 -associated skeletal dysplasias.
致死性骨发育不良、软骨发育不全和软骨-外胚层发育不良属于遗传性骨骼发育障碍的 () 组。在致死性骨发育不良和软骨-外胚层发育不良中以及在 1 例软骨发育不全中已有记录到颞叶异常。我们回顾性地确定了 2002 年至 2015 年间进行脑磁共振成像检查的 13 例软骨发育不全患儿。所有患儿的磁共振成像显示深横颞沟。进一步常见的神经影像学发现包括不完全的海马旋转（12 例患儿）、内侧颞叶过度脑回（11 例患儿）、内侧颞叶灰白质分界丧失（5 例患儿）和颞角呈三角形（6 例患儿）。这些表现与软骨发育不全中描述的非常相似，进一步证实了颞叶畸形与骨骼发育障碍的相关性。
