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• W2266639207 abstract "This is a report of the youngest known patient with pseudo-pseudo-hypoparathyroidism and the first child with the syndrome to be described in the American literature. In 1952 Albright et al. first reported this syndrome in an adult. The prefix pseudo-pseudo- was adopted because in a previously described syndrome, pseudo-hypoparathyroidism, the clinical findings described below plus convulsions had been associated with elevated concentrations of inorganic phosphorus and depressed concentrations of calcium in the serum. The patient is a white girl, age 7½ years, with retarded intellectual development and obesity (41.3 kg). There was no history of tetany or convulsions. Physical examination revealed round face, strabismus and stubby fingers. The fingernails and toenails were short and very wide. There were circular bluish areas over the thorax, abdomen and thighs. Concentrations of calcium, magnesium, total protein, albumin and globulin were normal as was the alkaline phosphatase activity. Concentrations of inorganic phosphorus in the serum ranged from 6.9 to 7.8 mg/100 ml. An Ellsworth-Howard test was negative, but the parathyroid extract used may not have been potent. Roentgenograms of the hands revealed abnormally short, bowed metacarpals and short phalanges, with bone age of 13 to 14 years. There was calcification of soft tissues of the feet. The ratio of width to length of the thumbnail was 2.8. Similar ratios obtained with children of similar age ranged from 1.1 to 1.4. It is suggested that the ratio of width to length of the thumbnail be included in the physical examination of children with convulsions of unknown etiology, in an effort to identify more patients with pseudo-hypoparathyroidism. The mother had marked shortening of the fifth digit of each hand, with the site of the fifth knuckle replaced by a dimple. Her face was not especially round and she appeared to be of average intelligence. Roentgenogram of the mother's hands showed shortening of the right fourth and fifth metacarpals and the left fourth metacarpal, with extensive calcification of soft tissues in both hands and wrists. Pseudo-pseudo-hypoparathyroidism and pseudo-hypoparathyroidism exhibit a vertical familial pattern. This genetic pattern may be seen in diseases due to genes in the heterozygous state (i.e., so-called dominant genes). There is as yet no evidence that the two syndromes represent sex-linked genetic patterns." @default.
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• W2266639207 date "1959-03-01" @default.
• W2266639207 modified "2023-10-05" @default.
• W2266639207 title "PSEUDO-PSEUDO-HYPOPARATHYROIDISM IN A CHILD" @default.
• W2266639207 doi "https://doi.org/10.1542/peds.23.3.520" @default.
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