Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
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منابع مشابه
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestation. We report five families with a total of 11 children affected with severe neonatal SJS. All presented after birth with skeletal abnormalities a...
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The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by Constant fìndings such as typical facial appearance, muscle hypertrophy and continuous muscle activity. Other fìndings are more or less frequently associated, especially skeletai abnormalities, including dwarfism or anyway short stature. The Authors review thè literature about this condition analysing thè clinical pict...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.3.203