pyknodysostosis
A 12-year-old boy is referred for evaluation of recurrent fractures. He has had 5 long bone fractures following minor trauma since age 4. Physical examination reveals height at the 3rd percentile, frontal bossing, micrognathia, delayed closure of fontanelles, and hypoplastic clavicles. His distal phalanges appear short. Radiographs show diffusely increased bone density with transverse lucent lines in metaphyses and acro-osteolysis of the distal phalanges. **What is the MOST likely diagnosis?**
Mark each as TRUE or FALSE
Osteopetrosis (Albers-Schönberg disease)
Pyknodysostosis
Cleidocranial dysplasia
Osteogenesis imperfecta type I
Hyperostosis corticalis generalisata
Answer the questions to see explanations
Click T (True) or F (False) for each option