Pseudohypoparathyroidism in Infancy

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چکیده

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Pseudohypoparathyroidism in infancy.

Although many of the previously reported cases of this rare condition have occurred in childhood it has not previously been diagnosed during the first year of life, despite the fact that symptoms may begin in infancy (Peterman and Garvey, 1949; MacGregor and Whitehead, 1954; Cusmano, Baker and Finby, 1956). The following report records the youngest example of pseudohypoparathyroidism yet report...

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Spinal Cord Compression in Pseudohypoparathyroidism.

The syndrome of pseudohypoparathyroidism describedbyAlbright, Burnett, Smith, andParson (1942) has been well reviewed by MacGregor andWhitehead (1954) and by Mann, Alterman, and Gorman Hills (1962). The clinical features consist of mental retardation, epilepsy and attacks of tetany, as well as ectodermal defects such as alopecia, defective dentition, brittlenails, andcataracts. There are also c...

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Pseudohypoparathyroidism: phenotypic spectrum in kindred

Pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of disorders due to an inactivating mutation in the GNAS gene which encodes the a subunit of Gs proteins (Gsa). Gsa plays a crucial role in intracellular signal transduction of peptides, hormones and neurotransmitter receptors in multiple tissues. Key features of PHP include Albright Hereditary Osteodystrophy (AHO) and biochemical...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1960

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.35.183.506