Arora Veronica, Leon Eyby, Diaz Jullianne, Hove Hanne Buciek, Carvalho Daniel Rocha, Kurosawa Kenji, Nishimura Naoto, Nishimura Gen, Saxena Renu, Ferreira Carlos, Puri Ratna Dua, Verma Ishwar C
Institute of Medical Genetics and Genomics, New Delhi, India.
Rare Disease Institute, Children's National Health System, Washington DC, USA.
Eur J Med Genet. 2020 Aug;63(8):103967. doi: 10.1016/j.ejmg.2020.103967. Epub 2020 May 27.
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.
报春花综合征（OMIM 259050）是一种罕见的疾病，其特征为巨头畸形伴发育迟缓、具有可识别的面部表型、糖代谢改变以及其他特征，如感音神经性听力损失、身材矮小和耳软骨钙化。它由转录抑制因子POK家族成员ZBTB20中的杂合变异引起。最近，该基因通过抑制SOX9对软骨细胞分化的作用，被证明在骨骼发育中发挥作用。我们描述了5例患有报春花综合征且具有独特骨骼特征的无关患者，这些特征包括多处缝间骨、扁颅底、双侧颞部隆起、长头畸形、骨骼纤细、骨骺和脊椎发育异常。颅骨的放射学异常和骨骺发育异常是最一致的发现。这种新的骨骼特征组合扩展了该疾病的表型谱。
