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Neonatal manifestations of Schwartz-Jampel syndrome

✍ Scribed by Farrell, S. A. ;Davidson, R. G. ;Thorp, P. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
766 KB
Volume
27
Category
Article
ISSN
0148-7299

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✦ Synopsis

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.

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