Table 1:

Dysplasias of endochondral bone formation^6,7

Diagnosis	Genetics of inheritance	Distinctive radiologic features	Distinctive clinical features
Osteopoikilosis	AD or sporadic	Sclerotic, rounded or oval foci with a typically periarticular distribution	Asymptomatic if sporadic; AD form is associated with dermatofibrosis lenticularis disseminata
Enostosis (bone island)	None (not inherited)	Sclerotic, rounded or oval foci (scattered)	Asymptomatic
Osteopetrosis	AR (lethal) or AD (adult form)	Diffuse sclerosis or bone-within-bone pattern	Variable anemia and increased risk of fractures
Pycnodysostosis	AR	Diffuse sclerosis (similar to osteopetrosis)	Dwarfism, mandibular hypoplasia, short fingers
Osteopathia striata	AD or sporadic	Linear areas of sclerosis with periarticular distribution	Asymptomatic
Osteopathia striata with cranial sclerosis	AD	Linear areas of sclerosis with periarticular distribution	Cranial nerve dysfunction

Note: AD = autosomal dominant, AR = autosomal recessive.