Osteopetrosis in Successive Generations
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چکیده
Case 1. A full-term male child, weighing 6j lb., the product of a second pregnancy, was born on Aug. 3, 1945. The parents were unrelated. When three months old the child was thought to be blind, and two months later on x-ray examination a diagnosis of osteopetrosis was made. Mental retardation was noted at ten months. At two years two months he was admitted to the Royal Blind School; he was a well built and well nourished child (fig. 1). When two and a half years old he weighed 28 lb., was 33 in tall, had a crown-rump measurement of 19j in., and an arm span of 31 in. The intmeatal measurement was 12j in, the occipito-frontal circumference 19in. The thoracic circumference at the nipple level was 19 in. The head showed slight frontal and more marked parietal bossing. The general outline suggested ft degree of hydrocephalus. The pupils did not react to light and there was bilateral optic atrophy. Nasal obstruction and mouth-breathing were present. Dental eruption had been normal and the teeth appeared in good condition, though the lower lateral incisors and lower right second molar were missing No enlawment of liver, spkee or lymph glands was
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