Neuroimaging and calvarial findings in achondroplasia

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Sarioglu F. C., Sarioglu O., Güleryüz Uçar H.

PEDIATRIC RADIOLOGY, sa.12, ss.1669-1679, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1007/s00247-020-04841-8
  • Dergi Adı: PEDIATRIC RADIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, Biotechnology Research Abstracts, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1669-1679
  • Anahtar Kelimeler: Achondroplasia, Brain, Children, Computed tomography, Magnetic resonance imaging, Skull base, CERVICOMEDULLARY COMPRESSION, FORAMEN MAGNUM, CHILDREN, HYDROCEPHALUS, BRAIN
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.