Mei Li

Genotype and phenotypic spectrum of pycnodysostosis: report of a case harboring two novel CTSK variants and literature review

Pycnodysostosis is an extremely rare inherited skeletal dysplasia with incidence of about 1 to 1.7 per million neonates. We reported a patient with pycnodysostosis, who had typical craniofacial deformity, short stature and recurrent limb fracture history. Literature was comprehensively reviewed to summarize the p...