Unique skeletal manifestations in patients with Primrose syndrome.

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.
PMID: 32473227 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - May 26, 2020 Category: Genetics & Stem Cells Authors: Arora V, Leon E, Diaz J, Hove HB, Carvalho DR, Kurosawa K, Nishimura N, Nishimura G, Saxena R, Ferreira C, Puri RD, Verma IC Tags: Eur J Med Genet Source Type: research