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A Case of Hypophosphatasia in Newborn ( A Case of Hypophosphatasia in Newborn )
(D. Sich) , (M.S.Soh) , (B. I. Hyun)
UCI I410-ECN-0102-2009-510-005339970
This article is 4 pages or less.

At the Presbyterian Medical Center, Chonju, Korea, in May of 1968 an unusual case of malformation was oberved. A child with the features of an achoncroplastic dwarf was born lacking any demonstrable bone formation by X-ray. There is reason to belive that this condition is related to the rare recessive heredetary metabolic disorder of hypophophatasia. In the literature there are a few cases of newborn classified as hypophosphatasia that had similar gross appearance and roentgenologically little evidence of born. The delivery presented unusual deagnostic problems. The mother, a 31 year old G6 P4 housewife, was admitted at 34 weeks gestation with a chronic hydramnion. Two of her four children were alive; two , a male and a female, died at the neonatal period of unknown cause. She admitted later, after intersive interrogation, that the boy had similar malformation.

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