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Atelosteogenesis type III: a distinct skeletal dysplasia
with features overlapping atelosteogenesis and
oto-palato-digital syndrome type II.
Stern HJ, Graham JM Jr, Lachman RS, Horton W, Bernini PM, Spiegel PK, Bodurtha J,
Ives EJ, Bocian M, Rimoin DL.
Medical Genetics-Birth Defects Center, Ahmanson Pediatrics Center, Cedars-Sinai
Medical Center, UCLA School of Medicine 90048.
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.
PMID: 2368807 [PubMed - indexed for MEDLINE]