Literature DB >> 13679294

Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.

Sarah S Samimi1, Walter S Lesley.   

Abstract

Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma, and blunted pterygoid processes.

Entities:  

Mesh：

Year:  2003        PMID： 13679294      PMCID： PMC7973989     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


  15 in total

1.  Congenital blepharophimosis associated with a unique generalized myopathy.

Authors:  O SCHWARTZ; R S JAMPEL
Journal:  Arch Ophthalmol       Date:  1962-07

2.  Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.

Authors:  L I Al-Gazali; M Bakir; Z M Hamid; R Nath; D Haas
Journal:  Clin Dysmorphol       Date:  2000-04       Impact factor: 0.816

3.  Stüve-Wiedemann syndrome: update and historical footnote.

Authors:  H R Wiedemann; A Stüve
Journal:  Am J Med Genet       Date:  1996-05-03

4.  Single muscle fiber recordings in the Schwartz-Jampel syndrome.

Authors:  C Jablecki; P Schultz
Journal:  Muscle Nerve       Date:  1982       Impact factor: 3.217

5.  Compressive myelopathy in the Schwartz-Jampel syndrome.

Authors:  D L Smith; R Shoumaker; R Shuman
Journal:  Ann Neurol       Date:  1981-11       Impact factor: 10.422

6.  Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

Authors:  B Chabrol; S Sigaudy; V Paquis; M F Montfort; H Giudicelli; J F Pellissier; V Millet; J Mancini; N Philip
Journal:  Am J Med Genet       Date:  1997-10-17

7.  Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.

Authors:  E Chen; P D Cotter; R A Cohen; R S Lachman
Journal:  Am J Med Genet       Date:  2001-07-01

8.  Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Authors:  L I Al-Gazali; M Varghese; E Varady; J Al Talabani; J Scorer; D Bakalinova
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

9.  Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Authors:  Eri Arikawa-Hirasawa; Alexander H Le; Ichizo Nishino; Ikuya Nonaka; Nicola C Ho; Clair A Francomano; Prasanthi Govindraj; John R Hassell; Joseph M Devaney; Jürgen Spranger; Roger E Stevenson; Susan Iannaccone; Marinos C Dalakas; Yoshihiko Yamada
Journal:  Am J Hum Genet       Date:  2002-04-08       Impact factor: 11.025

10.  Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.

Authors:  S Nicole; C Ben Hamida; P Beighton; S Bakouri; S Belal; N Romero; D Viljoen; G Ponsot; A Sammoud; J Weissenbach
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150
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