Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

Unique skeletal manifestations in patients with Primrose syndrome

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome

    Research output: Contribution to journalReviewpeer-review

  2. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with Marfan Syndrome assessed by HR-pQCT

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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
View graph of relations

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.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume63
Issue number8
Pages (from-to)103967
ISSN1769-7212
DOIs
Publication statusPublished - Aug 2020

    Research areas

  • Abnormalities, Multiple/genetics, Adolescent, Bone and Bones/abnormalities, Calcinosis/genetics, Child, Child, Preschool, Ear Diseases/genetics, Female, Humans, Intellectual Disability/genetics, Male, Muscular Atrophy/genetics, Nerve Tissue Proteins/genetics, Phenotype, SOXB1 Transcription Factors/genetics, Transcription Factors/genetics, Young Adult

ID: 62102033