Presented with Matthew’s case the doctors proceed to run physical tests. Doctors observe that due to Matthew’s underdevelopment in weight, his skin has become very lax which results in being very wrinkled and there is increased melanin in the basal layer. In the skeletal structure, there is coxa valga, which is a deformity in the hip. In the x-ray of Matthew’s skull there is obvious craniofacial disproportion and there is joint deformity in the hands and fingers. A urine test was administered and the result was an excessive excretion of hyaluronic acid. A skin culture was obtained and it exhibited 76.1% DNA repair capacity compared with normal skin cultures of infants his age. A genetic assessment was also ordered and it showed that there was sporadic dominant mutation. They also did an arterial biopsy which showed there was premature athersclerosis and subintimal fibrosis which of course is very rare in infants and is more commonly
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