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Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and
H J Stern1, J M Graham, R S Lachman
1Medical Genetics-Birth Defects Center, Ahmanson Pediatrics Center, Cedars-Sinai Medical Center, UCLA School of Medicine 90048.
American Journal of Medical Genetics
|June 1, 1990
Abstract:
We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.