Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.
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.
Stern
H J
HJ
Medical Genetics-Birth Defects Center, Ahmanson Pediatrics Center, Cedars-Sinai Medical Center, UCLA School of Medicine 90048.
Graham
J M
JM
Lachman
R S
RS
Horton
W
W
Bernini
P M
PM
Spiegel
P K
PK
Bodurtha
J
J
Ives
E J
EJ
Bocian
M
M
Rimoin
D L
DL
D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004392:Dwarfism / Q000150:complications; D005260:Female; D005360:Fibula / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome