Today I had a very interesting case present. When I walked in the room I could not help noticing the father was very odd looking. The patient was a 3 year old female who was slightly abnormal looking. The patient was a regular patient of my attending so he was aware of the syndrome and I think he wanted to test me a see if I could diagnose the syndrome. The patient was visiting because of an ear infection and not for the syndrome.
I am aware of a handful of genetic disorders that manifest with craniofacial abnormalities. This patient looking like she had an enlarged forehead and exophthalmos (bulging eyes) sometimes seen in Grave's disease. After I examined the girl I verified there was an ear infection I grabbed a book on genetic disorders and thumb through the section on facial disorders and quickly came across some pictures that looked like this patient.
It is called Crouzon Syndrome also called craniofacial dysostosis which is a genetic syndrome. Basically the bones in the skull and face fuse too early and then can't expand. This causes abnormal bone growth and deformities of the face. This is a fairly rare disorder (1 in 25,000) so I was lucky to see a case. The father had a very profound case and never had any intervention. The girl's case was fairly mild. The treatment involves surgery to prevent the closure of the sutures. If there is no intervention there is a high risk of brain damage and mental retardation because the brain can't grow correctly. I think that the father had some developmental delay but he was not fully retarded. The patient's mother was normal. The patient is scheduled for surgery in the next year.
I have included some pictures of patients with Crouzon Syndrome.
No comments:
Post a Comment