Schwartz-jampel syndrome: report of five cases
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...
Saved in:
| Main Authors: | Umbertina Conti Reed, Rubens Reimão, Adriana Ávila Espíndola, Fernando Kok, Lúcio Gobbo Ferreira, Maria Bernardete Dutra Resende, Thelma Correia Messias, Mary Souza Carvalho, Aron Diament, Milberto Scaff, Suely Kazue Nagahashi Marie |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Revinter Publicações
2002-09-01
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500010&tlng=en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation
by: Gürkan Gürbüz, et al.
Published: (2019-12-01) -
Schwartz–Jampel syndrome: comprehensive diagnostics and orthopedic treatment
by: V. M. Kenis, et al.
Published: (2020-08-01) -
Clinico‑genetic heterogeneity of chondrodysthrophic myotonia
by: N. A. Shnayder
Published: (2015-02-01) -
Peroperative Notification of Schwartze Sign in Otosclerosis
by: Kanu Lal Saha, et al.
Published: (2024-10-01) -
Validation of Schwartz’s Human Values Scale in Spanish Children
by: José L. Álvaro, et al.
Published: (2025-01-01)