Pycnodysostosis. A variant form with visceral manifestations.

SELF ASSESSMENT ANSWERS Skeletal dysplasia with unusual visceral manifestations

Q1: What is the diagnosis? The diagnosis is pycnodysostosis, which is a rare form of skeletal dysplasia characterised by moderate and generalised osteosclerosis. The diagnosis is based on clinical features and radiological findings. The cardinal features are short stature, large open fontanelles (the fontanelles may remain open even in adulthood), an obtuse mandibular angle, dysplastic clavicle...

SELF ASSESSMENT ANSWERS Skeletal dysplasia with unusual visceral manifestations

Q1: What is the diagnosis? The diagnosis is pycnodysostosis, which is a rare form of skeletal dysplasia characterised by moderate and generalised osteosclerosis. The diagnosis is based on clinical features and radiological findings. The cardinal features are short stature, large open fontanelles (the fontanelles may remain open even in adulthood), an obtuse mandibular angle, dysplastic clavicle...

Pycnodysostosis: orofacial manifestations in two pediatric patients.

A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism.

Pycnodysostosis is a rare autosomal recessive skeletal disorder involving a constellation of craniofacial manifestations including midface retrusion. We report the case of a 13-year-old girl with pycnodysostosis who presented with exorbitism, midface retrusion, malocclusion, and obstructive sleep apnea. Here, we describe the successful use of subcranial Le Fort III advancement using distraction...

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes

RATIONALE Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS We report a Korean adult patient with pycnodysostosis...