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Atelosteogenesis I and boomerang dysplasia: a question of nosology
Author(s) -
Hunter A. G. W.,
Carpenter B. F.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03060.x
Subject(s) - nosology , dysplasia , etiology , medicine , broad spectrum , dermatology , pathology , combinatorial chemistry , chemistry
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‐1 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.