Schwartz-Jampel syndrome: an atypical form?
The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum. The authors report on a 10-year-old girl with expressionless face, blepharophimosis, mild thoracic asymmetry, and myotonic electromyographic pattern, but without osteoarticular, spinal, and statural involvement. This appears to be one of the mildest form of SJS described so far. Contiguous genes could be an explanation for this and other atypical cases of SJS.
Figuera
L E
LE
División de Genética, UIBO-IMSS, Guadalajara, Jalisco, México.
Jimenez-Gil
F J
FJ
García-Cruz
M O
MO
Cantú
J M
JM
D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007596:Joints / Q000002:abnormalities; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D013131:Spine / Q000002:abnormalities