SUMMARYThe AA. have studied the pedigree of a family with Marfan's Syndrome (M.S.) including 90 persons of four generations. 37 subjects were examined both from a general and from an ophcalmological point of view. Furthermore reliable informations have been obtained about 13 more subjects related with them. Out of the total of 50 persons about whom the A A. have gathered sufficient evidence, 22 turned out to be affected by « ectopia lentis », 20 by various skeletal malformations, all of them included in the general picture of M.S. In 5 more cases some signs of cardiac involvement have been found. The percentage of affected subjects in the whole family was 40%, whereas the hereditary transmission of this syndrome appeared to be typical of a presumably single autosomal dominant character.This is the first report in the literature of a consanguineous marriage between two subjects both affected by M.S. Out of 9 children who were born from this couple, 4 presented the M.S. (2 of them in a particularly severe form), 3 died during infancy, one was a stillborn and only one was a healthy individual.The number of cases of this syndrome described in the medical literature is in continuous increase. Furthermore the growing prominence it is assuming in general medicine, owing to the skeletal, cardiac and vascular anomalies, stimulates to a more thorough knowledge of its hereditary transmission, in the hope of achieving a useful social prophylaxis.
SUMMARYThe Authors studied the leukocyte alkaline phosphatase (LAP) activity in 40 subjects with Down's syndrome. The age of the patients ranged from one week to 15 years. Chromosome analysis was carried out in 13 cases. 42 normal children of the same age as the patients were used as controls. The mean value of LAP in the patients with Down's syndrome was 175.5 and in the control group 108.8. In the latter group the LAP activity was clearly influenced by the age; the highest values were obtained in children under 11 years of age. The regression coefficient of the LAP on the age in the control group was –3.73. In the patients with Down's syndrome the differences observed between the various age groups were not statistically significant.Chromosome studies showed a 21 trisomy in 12 cases; in one case a 15/21 translocation was found. The latter case presented an elevated LAP activity.The Authors support the hypothesis that the gene or genes controlling LAP activity are located in the 21 chromosome and that the LAP activity may vary under the influence of several factors within the limits of the genetic control.
SUMMARYThe Authors describe a pedigree including four certain and two probable cases of «Ehlers-Danlos syndrome ». All the affected subjects were born to consanguineous but apparently healthy parents. Of the three main symptoms of the syndrome, the patients presented hyperelasticity of the skin and hyperlaxity of the joints and of the ligaments, while the signs of cutaneous fragility were absent (« partial form » of E.-D. syndrome). In the first two cases it was possible to find some less common aspects of the E.-D. syndrome, such as ectasia of the trachea and of the main bronchi, anomalies regarding the eyes, the teeth and the nails, muscular hypotonia and hypotrophia, and particularly some skeletal manifestations (bending of the long bones, osteoporosis, anomalies of the methaphysis and epiphysis of the tubular bones, vertebral, thoracic and pelvic deformations).The Authors emphasize the importance of these less common aspects of the E.-D. syndrome, and the similarity between these clinical signs and those found in other « heritable disorders of the connective tissue ».The type of inheritance in this family (autosomal recessive) is discussed, in comparison to the commoner type (autosomal dominant) of inheritance of the E.-D. syndrome.
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