Neonatal manifestations of Schwartz-Jampel syndrome.
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.
Farrell
S A
SA
Department of Pediatrics, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Davidson
R G
RG
Thorp
P
P
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