Atelosteogenesis I and boomerang dysplasia: a question of nosology.
We report a patient whose clinical, radiologic and histopathologic findings are compatible with severe atelosteogenesis (AT-I). The patient is compared with previously reported cases of AT-I, as well as with patients reported as having "boomerang" dysplasia. We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spectrum, probably reflecting a common etiology. More and detailed clinical, radiologic and histopathologic reports are needed to further clarify the relationship of AT-II and AT-III in this family of skeletal dysplasias.
Hunter
A G
AG
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Carpenter
B F
BF
D001842:Bone and Bones / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology