title: Neonatal manifestations of Schwartz-Jampel syndrome.
abstract: Schwartz-Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the literature is reviewed.
authors.affiliation: Department of Pediatrics, McMaster University Medical Centre, Hamilton, Ontario, Canada.
authors.forename: S A
authors.initials: SA
authors.lastname: Farrell
authors.forename: R G
authors.initials: RG
authors.lastname: Davidson
authors.forename: P
authors.initials: P
authors.lastname: Thorp
mesh_terms: D004576:Electromyography; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008865:Microstomia / Q000000981:diagnostic imaging*; D009059:Mouth Diseases / Q000000981:diagnostic imaging*; D009122:Muscle Hypertonia / Q000503:physiopathology; D009132:Muscles / Q000002:abnormalities*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D012131:Respiratory Insufficiency / Q000503:physiopathology