One year old male infant named Matthew is brought into the clinic by very worried parents. Infant shows abnormal symptoms such as stunted growth and underdevelopment of weight for his age and he has no hair on him, a condition called alopecia. Alopecia in his case took off all the hair off his head and his eyebrows and eyelashes. Infant’s head was severely disproportioned to his body and also was disproportioned to his face. His face appeared to be very shrunken and small and he had an underdeveloped jaw, which gave him the appearance of an old man. Infant male also shows prominent scalp veins, protruding ears, and nail dystrophy. Doctors immediately start running some tests, trying to diagnose the patient, Patient’s medical history shows that he was born at a normal height and weight and was interacting normally with the parents. He showed interaction with eye contact, hearing , and sense of touch. Patient was on a regular schedule and was feeding normally as well but development just seemed to severely slow down altogether.
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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