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Review
. 1987 Aug;27(4):799-805.
doi: 10.1002/ajmg.1320270409.

Neonatal manifestations of Schwartz-Jampel syndrome

S A Farrell  1 , R G Davidson, P Thorp
Affiliations
Review

Neonatal manifestations of Schwartz-Jampel syndrome

S A Farrell et al. Am J Med Genet. 1987 Aug.

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.

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