title: Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.
abstract: Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.
authors.affiliation: St. Louis Children's Hospital Department of Radiology, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA. hermant@mir.wustl.edu
authors.forename: Thomas E
authors.initials: TE
authors.lastname: Herman
authors.forename: Benjamin C P
authors.initials: BC
authors.lastname: Lee
authors.forename: William H
authors.initials: WH
authors.lastname: McAlister
mesh_terms: D000015:Abnormalities, Multiple; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging; D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013117:Spinal Cord Compression / Q000150:complications* / Q000151:congenital / Q000000981:diagnostic imaging; D013130:Spinal Stenosis / Q000150:complications* / Q000151:congenital / Q000000981:diagnostic imaging