Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype.

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.

[Robinow syndrome (fetal-face dwarfism). Presentation of a case and review of the literature]. / Síndrome de Robinow (nanismo de la cara fetal). Presentación de un caso y revisión de la literatura.

A 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.

[HGH response to dihydroxyphenylalanine (L-dopa) (author's transl)]. / Respuesta de la hormona del crecimiento (HGH) a la dihidroxifenilalanina (L-dopa)

L-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 (12.71 +/- 11.61 ng/ml; p less than 0.0005). Significant responses were also obtained at 60' (11.81 +/- 10.47 ng/ml; p less than 0.0005), 90' (7.25 +/- 7.49 ng/ml; p less than 0.0005) and 120' (4.8 +/- 4.86 ng/ml; p less than 0.005).