Clinic - Week # 6

This week in clinic I didn't seen anything exciting, so I deiced to research a article and post something on a topic we don't see everyday.

I looked up Goldenhars syndrome. This is a rare, sporadic syndrome that was founded in the 1950's. Characteristics of this syndrome malformation of the ear, auricular appendices, vertebral anomalies, occulomotor problems, hemifacial microsomia, and agenesis and hypolasia of the mandible. Some other characteristics could be cleft lip and palate, central nervous system, and visceral anomalies.

Diagnosis is hard because not enough information is readily available from previous cases. Some chromosomes have been identified and a suggested disturbance of neural crest cells could be the cause of the disease. Environmental factors such as drugs and maternal diabetes have also been suggested as causes of the disease.

Clinical relationship: Patients with Goldenhars could have microtia and appendices of the ear, mandibular hypoplasia, palpebral alteration, lateral facial clefts (look for a conductive hearing loss associated with clefting problems), and renal problems.

Here is a case study of an 11 year-old, white, female with Goldenhars. She presented with facial asymmetry, hypoplasia of the mandible, dermoid epibulbar tumor on the left eye, and birthmarks on the upper lip and palate. No mental problems were detected during testing. The mother reported used of an anti-convulsive drug (Comital) because of epilepsy prior to knowing of the pregnancy. After, the drug was changed to Phenobarbital Gardenal which is more suitable for use during pregnancy. Dental development was normal, and an x-ray of the skull and vertebral column did not show any abnormalities. Hypoplasia of the mandible was seen on the left side and absence of the coronoid process was observed.

The case study mentioned that this condition is controversial because of the complexity and the broad clinical aspects.

Check it out!!

http://www.scielo.br/pdf/bdj/v14n1/v14n1a13.pdf