ABSTRACT
Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
Subject(s)
Ehlers-Danlos Syndrome/genetics , Adolescent , Genes, Dominant , Genetic Variation , Humans , Intellectual Disability/genetics , Male , Mutation , Paternal AgeABSTRACT
Six uremic dhildren in periodic hemodialysis with protein-calorie malnutrition were studied. Three of them were given diet supplementation with a compound constituted by carbohydrates and essential amino acids. Evaluation at ,3 and 6 months with somatometry, rutine laboratory analysis, intravenous glucose tolerance test and plasma amino acid determinations, showed that patients with diet supplementation had a slight increase in height and body weight, improved glucose in tolerance, that was initialy detected, and an abnormal pattern of plasma amino acids not modified during the study. Patients without diet supplementation showed no changes in height, body weight, glucose tolerance and plasma amino acids. These results suggest that diet supplementation with carbohydrates and amino acids is useful to improve nutrition in uremic children on hemodialysis, but it is neccesary to study more patients.