Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations.
Radiographic, clinical, and histologic findings in two infants and a neonate with a syndrome of profoundly accelerated skeletal maturation included features closely resembling those of Marshall-Smith (MS) syndrome, but patients had dysmorphic ears as well as distinctive generalized skeletal abnormalities suggestive of a bone dysplasia. Among these was an instability at the craniocervical junction with severe spinal stenosis. These previously unrecognized abnormalities may represent uncommon manifestations within the spectrum of MS syndrome or indicate the existence of a separate disorder.
Eich
G F
GF
Department of Radiology, Hospital for Sick Children, University of Toronto.
Silver
M M
MM
Weksberg
R
R
Daneman
A
A
Costa
T
T
D001268:Atlanto-Axial Joint / Q000002:abnormalities; D001269:Atlanto-Occipital Joint / Q000002:abnormalities; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D002574:Cervical Vertebrae / Q000002:abnormalities; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D005183:Failure to Thrive / Q000150:complications; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009999:Ossification, Heterotopic / Q000150:complications; D011859:Radiography; D013577:Syndrome