title: Schwartz-Jampel Syndrome.
authors.affiliation: Northeastern University, Boston, Massachusetts.
authors.forename: Natasha
authors.initials: N
authors.lastname: Mathur
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts. Electronic address: partha.ghosh@childrens.harvard.edu.
authors.forename: Partha S
authors.initials: PS
authors.lastname: Ghosh
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology