Medical and social aspects of the life course for adults with a skeletal dysplasia: a review of current knowledge.

PURPOSE: The paper examines the general literature and available research evidence on medical, health and social aspects of life for adults with skeletal dysplasia conditions causing profound short stature. METHOD: The paper reports on a literature review using available medical, psychological and social sources. RESULTS: There is a dearth of methodologically sound research evidence in this field, and this is particularly marked in areas such as transition to adulthood, ageing and medical, surgical and health experiences. CONCLUSIONS: There are serious gaps in the available literature and research evidence is sparse and often based on biased samples of limited numbers. This means that it is difficult to get information beyond the anecdotal in assessing the health and social needs of this group of people, and in particular to define needs that are currently unmet. It also limits the scope of advice and information available to health professionals and others in the field who offer support to adults with the conditions and parents of newly-diagnosed babies and young children.

[Surgical limb lengthening in patients of short stature. Indications, complications and results]. / Allongement chirurgical chez les patients de petite taille. Indications, complications et résultats.

PURPOSE OF THE STUDY: The authors report their experience in limb lengthening in 55 patients with short stature. MATERIALS AND METHODS: Surgical treatment must begin at the age of 13-15 years to obtain better collaboration from the patient which is necessary to obtain a good result. The general indication for surgery includes short stature between 110 and 150 cm. The major indication is disproportionate short stature. The authors have operated on some cases of short stature in which there was a disproportion between thighs and legs and other short stature without disproportion. In these patients they have tried to obtain the greatest lengthening compatible with good appearance. RESULTS: Examining the complications, the authors have noted that the rate of bone infections is clearly decreased, whereas non union, a frequent complication of the original Wagner method, has completely disappeared. The use of a circular device has not caused an increase of neurological complications, which on the contrary have diminished. DISCUSSION: Surgical lengthening of the lower limbs in disproportionate dwarfism can lead to cosmetic, functional and psychological benefits. The treatment is long and demanding, for the surgeon and especially for the patient. For this reason it is necessary to carefully evaluate the motivations of the patient, who must be well aware of the achievable results as well as of the possible complications. CONCLUSION: Such a treatment must be undertaken in specialized centers, not only owing to surgical difficulties, but especially because it requires a continuous clinical check and a strong post-operative physiotherapy.

Normalized growth velocity in children with Down's syndrome during growth hormone therapy.

Between 6 months and 3 years of age, growth velocity in children with Down's syndrome (DS) is markedly reduced in comparison to that of healthy children. However, after 3 years of age, it is almost normal. Thus, growth retardation becomes pronounced during the period when growth hormone (GH) starts to regulate growth. The present authors report the long-term effects of GH-therapy in 16 children with DS, who are being treated for 3 years from the age of 6-9 months. The treatment, Genotropin, 0.1 U kg-1 BW day-1, was started at a mean age of 7.4 (6-9) months. The results after 12 (n = 16), 24 (n = 12) and 30 (n = 8) months are presented. The mean height standard deviation score, SDS (range; Swedish standard), before therapy was -1.8 (-0.5 to -3.1) and the mean head circumference was -1.2 (-0.4 to -3.5). After 12, 24 and 30 months, the mean height SDS were -1.1 (-0.8 to -1.9), -0.9 (0 to -1.5) and -0.9 (0.1 to -1.5) and the mean head circumference SDS were -1.1 (0 to -2.5), -1.1 (0 to -2.2) and -1.2 (-0.5 to -2.0), respectively. During hGH-treatment, the children with DS thus gained height during the first year, and then followed the growth rate of healthy Swedish children. When compared to growth charts for children with DS the mean height of these children started at the fiftieth centile and reached the ninety-fifth centile after 24 months of treatment. Head circumference only slightly increased during the therapy, and not to the same extent as height. This indicates that small head circumference in DS is not only an effect of growth retardation, but also due to microcephaly.