title: Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.
abstract: Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling Kniest disease, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the diagnosis of Schwartz-Jampel syndrome (SJS, myotonic chondrodysplasia) in all of them. SJS may be suspected in neonates with Kniest-like chondrodysplasia, congenital bowing of shortened femora and tibiae, and facial manifestations consisting of a small mouth, micrognathia, and possibly pursed lips. The disorder must be differentiated from the Stüve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis. The demise of "kyphomelic dysplasia" as a nosological entity reemphasizes the symptomatic nature of congenital bowing of the long bones.
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
authors.forename: J
authors.initials: J
authors.lastname: Spranger
authors.forename: B D
authors.initials: BD
authors.lastname: Hall
authors.forename: B
authors.initials: B
authors.lastname: Häne
authors.forename: A
authors.initials: A
authors.lastname: Srivastava
authors.forename: R E
authors.initials: RE
authors.lastname: Stevenson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007738:Kyphosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D020967:Myotonic Disorders / Q000175:diagnosis* / Q000235:genetics; D010007:Osteochondritis / Q000175:diagnosis* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree