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.

Primrose 综合征 (OMIM 259050) 是一种罕见的疾病，其特征是具有发育迟缓的大头畸形、可识别的面部表型、葡萄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。它是由 ZBTB20 中的杂合变体引起的，ZBTB20是 POK 转录抑制因子家族的成员。最近，该基因被证明通过抑制SOX9对软骨细胞分化的作用而在骨骼发育中发挥作用. 我们描述了五名不相关的 Primrose 综合征患者和不同的骨骼特征，包括多个 Wormian 骨、扁骨、双颞凸出、bathrocephaly、细长骨、骨骺和脊柱发育不良。颅骨的放射学异常和骨骺发育不良是最一致的发现。这种新的骨骼特征群扩展了该疾病的表型谱。