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Unique skeletal manifestations in patients with Primrose syndrome

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DOI

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  • Veronica Arora
  • Eyby Leon
  • Jullianne Diaz
  • Hanne Buciek Hove
  • Daniel Rocha Carvalho
  • Kenji Kurosawa
  • Naoto Nishimura
  • Gen Nishimura
  • Renu Saxena
  • Carlos Ferreira
  • Ratna Dua Puri
  • Ishwar C Verma
Vis graf over relationer

Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK family of transcription repressors. Recently, this gene was shown to have a role in skeletal development through its action on chondrocyte differentiation by repression of SOX9. We describe five unrelated patients with Primrose syndrome and distinct skeletal features including multiple Wormian bones, platybasia, bitemporal bossing, bathrocephaly, slender bones, epiphyseal and spondylar dysplasia. The radiological abnormalities of the skull and the epiphyseal dysplasia were the most consistent findings. This novel constellation of skeletal features expands the phenotypic spectrum of the disorder.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Vol/bind63
Udgave nummer8
Sider (fra-til)103967
ISSN1769-7212
DOI
StatusUdgivet - aug. 2020

Bibliografisk note

Copyright © 2020 Elsevier Masson SAS. All rights reserved.

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