Neuroimaging and calvarial findings in achondroplasia
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MINISYMPOSIUM: IMAGING OF SKELETAL DYSPLASIA
Neuroimaging and calvarial findings in achondroplasia Fatma Ceren Sarioglu 1
&
Orkun Sarioglu 2 & Handan Guleryuz 1
Received: 21 April 2020 / Revised: 7 July 2020 / Accepted: 7 September 2020 / # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Achondroplasia is the most common hereditary form of dwarfism and is characterized by short stature, macrocephaly and various skeletal abnormalities. The phenotypic changes are mainly related to the inhibition of endochondral bone growth. Besides the several commonly known physical features that are characteristic of this syndrome, achondroplasia can affect the central nervous system. The impact on the central nervous system can cause some important clinical conditions. Thus, awareness of detailed neuroimaging features is helpful for the follow-up and management of complications. Although the neuroimaging findings in children with achondroplasia have been noted recently, no literature has specifically reviewed these findings extensively. Radiologists should be familiar of these findings because they have an important role in the diagnosis of achondroplasia and the recognition of complications. The aim of this pictorial essay is to review and systematize the distinctive characteristics and abnormalities of the central nervous system and the calvarium in children with achondroplasia. Keywords Achondroplasia . Brain . Children . Computed tomography . Magnetic resonance imaging . Skull base
Introduction Achondroplasia, which is the most common skeletal dysplasia, is characterized by disproportionately short stature with rhizomelic shortening of the extremities. Specific mutations of the fibroblast growth factor receptor 3 (FGFR3) gene cause defective endochondral bone growth [1]. Various mutations in the FGFR3 gene are also responsible for a number of disorders such as hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome and Muenke syndrome [2]. The phenotypic changes are mainly related to the inhibition of endochondral bone growth. Achondroplasia can lead to various neurologic and otorhinolaryngologic risks and symptoms including motor delays, hydrocephalus, obstructive apnea, otitis media, sinusitis, dental malocclusion and cervical myelopathy [2–5]. Many neuroimaging findings as well as skull base abnormalities are associated with achondroplasia. Although many
* Fatma Ceren Sarioglu [email protected] 1
Department of Radiology, Division of Pediatric Radiology, Dokuz Eylul University School of Medicine, 35340 Balcova, Izmir, Turkey
2
Department of Radiology, Tepecik Training and Research Hospital, Health Sciences University, Izmir, Turkey
articles describe brain findings of hypochondroplasia and thanatophoric dysplasia, the neuroimaging findings in children with achondroplasia have only recently drawn more attention [6–8]. The neuroimaging findings in achondroplasia and its complications or symptoms are summarized in Table 1. To understand the implications of brain and calvarial involvement of
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