P282 Scott aarskog syndrome and rare milder mental retardation in twin brothers and girl cousin
Introduction Scott Aarskog syndrome is an X-linked disorder characterised by short stature, hypertelorism, shawl scrotum in boys and brachydactyly. Syndrome is a genetic abnormality and the condition cannot be cured by optimal way. Aims The aim of this paper is to describe an extremely rare syndrome especially with mild mental retardation. Methods In two cases, the twin brothers and cousins girls where genetically established Scott Aarskog syndrome were made IQ tests in relation to the age of the children. Normally at this syndrome is very rare mental retardation. Results Boys with Scott Aarskog syndrome have had a rounded face with a broad forehead, but girls has no had. IQ test results showed that the twins, seven years old had IQ 69 or 71, a girl six years ald girl cousin 78. Affected twin brothers also have an abnormally long groove in the upper lip or philtrum and a broad nasal bridge. Tissue webbing between fingers and joint hypermobility with a pronounced hyperextension, flexion of the interphalangeal joints and brachydactyly in girl and both boys. The major signs of this X-linked condition are short stature. Musculoskeletal anomalies such as cervical vertebral anomalies, discrete spina bifida occulta, mild pectus excavatum, milder genu recurvatum, moderate joint restriction were presented in all three children relatives. Conclusions The prognosis of this disease is very bad with something shorter life, reduced everyday abilities for regular jobs, and in this case less severe retardation with disabilities to attend regular school and obtaining the title of the working capacity. Usually IQ in children is normal so this is a rare case that still occurs in Scott Aarskog syndrome.