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A case of Debre-Semelaigne syndrome, hypothyroidism with muscular hypertrophy, was presented. 4 year and 2 month old male patient was admitted with retarded growth, mental retardation, general muscular hypertrophy and muscular hypertonia. Thyroid function test revealed hypofunction and no visualization of thyroid gland was demons
trated by scintiscan. Bone X-ray study showed retarded bone growth. Muscle biopsy from calf muscle showed... |