Article
Schwartz-Jampel syndrome: report of five cases.
Arquivos de neuro-psiquiatria - 1 Sept 2002
Reed Umbertina Conti, Reimao Rubens, Espindola Adriana Avila, Kok Fernando, Ferreira Lúcio Gobbo, Resende Maria Bernardete Dutra, Messias Thelma Correia, Carvalho Mary Souza, Diament Aron, Scaff Milberto, Marie Suely Kazue Nagahashi
Abstract excerpt
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized...
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