Oto-palato-digitalt syndrom

Oversigtsartikel Dato: 06.03.2008

Oto-palato-digitalt syndrom tilhører gruppen af kraniotubulære knoglesygdomme (1). Lidelsen, der inddeles i type 1 og type 2 afhængigt af affektionsgraden, nedarves X-bundet. Man har i løbet af de sidste par år fået mulighed for genetisk udredning, men før dette har diagnosen udelukkende kunnet stilles på de kliniske karakteristika, som er meget specifikke. Nærværende artikel er en kasuistisk beskrivelse af syndromet, idet diagnostiske overvejelser og den følgende ortognatkirurgiske behandling skitseres. I modsætning til oplysninger i den tilgængelige litteratur viste vores patient sig at være særdeles velbegavet. Sidst i artiklen diskuteres vigtigheden af at kunne stille den rette diagnose og samtidigt sikre en optimal patientinformation.

Oto-palato-digital syndrome, (OPD). Diagnostic considerations and orthognathic surgery in a Danish patient. In the article the maxillofacial treatments of one patient is described. The diagnostic history of the patient is summarised as follows. Initially, post delivery, Pierre Robin Sequence was identified; only later, in adulthood, did the pa - tient receive the final diagnosis of OPD. This suddenly explained the syndrome specific traits including the pugilistic appearance, midfacial hypoplasia, excessive lower face height, supraorbital protuberances, ossicular defects with conductive and perceptive hearing loss, reduced vi - sion, brachy- and clinodactyly of fingers and shortened first toes (which gives the characteristic frog appearance), congenital heart failure and pectus excavatum. The patient had been socially handicapped until he was fitted with hearing aids as a teenager. Since then his mental skills im - proved dramatically and he proved to be very intelligent with an IQ of 152, (becoming a member of MENSA, a society exclusively for highly intelligent people). This high intelligence level is contrary to what is described in the literature, where poor cognitive skills are as - sociated with OPD. We therefore discuss the importance of sufficient communication between health professionals in relation to patients suffering from syndromes affecting the head and neck. This may prevent over reliance on the literature and the internet which can contain misleading information about the syndrome.