Pycnodysostosis: Case report

Abstract

Pycnodysostosis is a rare genetic osteopathy that combines: dysmorphic syndrome, osteocondensation and growth retardation. This is an newborn of 09 months old in whom a pycnodysostosis was suspected, he was referred by a geneticist to look for radiological signs of this disease. He was born in a first degree consanguineous marriage and had been suffering from repeated spontaneous fractures since birth. The examination revealed a facial dysmorphism with macrocephaly, a persistent anterior fontanel, protruding frontal bumps and micrognathia with a curved aspect of the left lower limb. Skeletal radiographs showed densification of the skull base bones, persistence of the anterior fontanel, hypoplasia of the lower jaw bone and several fractures of different ages with bone calluses, diffuse cortical thickening and metaphyseal enlargement with a short aspect of the upper limb bones were found. In view of the clinical signs and radiological manifestations, the diagnosis retained is pycnodysostosis. Orthopedic management was proposed for the family. Pycnodysostosis is a rare disease, sometimes difficult to diagnose and of delayed onset, which poses a differential diagnostic problem with osteopetrosis and osteogenesis imperfecta.