Experience of surgical treatment for craniofrontonasal dysplasia

We present a case of a 5-year-old girl diagnosed as having craniofrontonasal dysplasia (CFND), which was first reported by Cohen in 1979. CFND is very rare and reports concerning this syndrome have never been found in Japan. In our case, frontal plagiocephaly, third degree orbital hypertelorism and clefting nasal tip coexisted. At 10 months after birth when she visited our hospital, signs of craniostenosis were not recognized and cosmetic improvement was considered the main purpose of the treatment. We performed supraorbital bar reshaping, ethmoidectomy and orbitotomy for reconstruction in one-stage at the age of five. The operation produced marked improvement in her exotropia before entering a primary school. Past reports dealing with abnormalities of the central nervous system in this syndrome are few, but agenesis of the splenium was noted in our case. This paper is a report of our findings together with some discussions in reference to the literature.