The medical literature of the decade contains hundreds of reports of small trials of GH use in nearly every type of growth failure and shortness imaginable. In most cases, the growth responses were modest. For conditions with a large enough potential market, more rigorous trials were sponsored by pharmaceutical companies that were making growth hormone to achieve approval to market for those specific indications. Turner syndrome and chronic kidney failure were the first of these “nonGH-deficient causes of shortness” to receive FDA approval for GH treatment, and Prader-Willi syndrome and intrauterine growth retardation followed. Similar expansion of use occurred in Europe.One obvious potential market was adult GH deficiency. By the mid-1990s, several GH companies had sponsored or publicized research into the quality of life of adults with severe GH deficiency. Most were people having been treated with GH in childhood for severe deficiency. Although the injections are painless, many of them had been happy to leave injections behind as they reached final heights in the low-normal range. However, as adults in their 30s and 40s, these people, who had been children with growth hormone deficiency, were now adults with growth hormone deficiency and had more than their share of common adult problems: reduced physical, mental, and social energy, excess adipose and diminished muscle, diminished libido, poor bone density, higher cholesterol levels, and higher rates of cardiovascular disease. Research trials soon confirmed that a few months of GH could improve nearly all of these parameters. However, despite marketing efforts, most GH-deficient adults remain untreated.
Depending on the location of the exostoses they cause numerous complications such as compression of the spinal cord, asymmetric growth of the limbs and reduced mobility.Langer–Giedion syndrome initially causes joint hypermobility. This progresses to joint stiffness later in life when osteochondromas begin to develop, typically between infancy and mid-childhood, which decreases mobility. Hip dysplasia may be present, usually developing in early adulthood although it can occur in infancy or childhood. Skin, hair, sweat glands and nails
Ectodermal dysplasia is a key feature of Langer–Giedion syndrome.The majority of individuals with Langer–Giedion syndrome have sparse scalp hair; this is particularly severe in males, who often experience alopecia shortly after puberty. Despite this the eyebrows may be unusually thick. Cause
The syndrome occurs when a small piece of chromosome 8s long arm, which contains a number of genes, is missing. The loss of these genes is responsible for some of the overall characteristics of Langer–Giedion syndrome.The missing portion of the chromosome is 8q23.2–q24.1. This region includes the genes TRPS1 and EXT1. Diagnosis
Diagnosis is based on clinical findings and can be confirmed by cytogenetic testing, when the deletion is in an average of 5 Mb (millions of base pairs). Nowadays, it is a common practice to run an aCGH (array chromosome hybridization genome) study on peripheral blood of the patient, in order to delineate the extent of the loss of the genomic area, and the deleted genes. Treatment
While no genetic syndrome is capable of being cured, treatments are available for some symptoms. External fixators have been used for limbic and facial reconstructions.