Five families with balanced translocations involving 7p are reported. Three girls from two of these families presented several congenital malformations and partial trisomy 7p. A comparison is made of their phenotype with other reported cases.
View Article and Find Full Text PDFA new case of Robinow dwarfism syndrome, in a 26 month old child is described. The patient had most of the typical anomalies if the Robinow dwarfism syndrome. Authors describe the phenotype and review the literature on this syndrome.
View Article and Find Full Text PDFL-dopa, administered at dose levels of 250 mg., was used to assess HGH release in 36 children. In five cases of hypopituitary dwarfs no response was obtained and in the remaining 31 cases affected by short stature not of endocrine origin, the highest peak was produced 30' after the test (12.
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