Occipital projections in the skeletal dysplasias.
Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant.
Takamine
Yuji
Y
International Skeletal Dysplasia Registry, Department of Pediatrics and the Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Lachman
Ralph S
RS
Field
Fiona M
FM
Rimoin
David L
DL
D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D012042:Registries; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging