CONGENITAL MALFORMATIONS IN MYOTONIC DYSTROPHY

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Abstract
Sixty-seven patients with Myotonic Dystrophy were examined for the presence of additional congenital malformations. On X-ray examination of the skull hyper-ostosis frontalis interna and thickening of the calvaria were found in all but two patients. In 45% of the patients high arched palate was noted, and in 6 skeletal changes similar to the Marfan syndrome were detected. In 25% of the patients 38 various malformations were found. The musculo-skeletal system was especially involved. Urogenital and ocular changes were also noted. In Myotonic Dystrophy the skeletal system and especially the skull is so frequently involved that it seems that these lesions are an indivisible part of the disease, and have been included in the description of this entity.

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