Suzuki H, Nara T, Minato S, Kamiishi H
Department of Plastic and Reconstructive Surgery, School of Medicine, Iwate Medical University, Morioka.
Tohoku J Exp Med. 1991 Aug;164(4):251-7. doi: 10.1620/tjem.164.251.
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.
我们报告一例5岁女孩被诊断为颅额鼻发育异常（CFND），该病由科恩于1979年首次报道。CFND非常罕见，在日本从未发现过关于该综合征的报道。在我们的病例中，存在额部斜头畸形、三度眶距增宽和鼻尖裂。出生后10个月她来我院就诊时，未发现颅缝早闭的迹象，治疗的主要目的是改善外观。我们在她5岁时一期进行了眶上嵴重塑、筛窦切除术和眼眶切开术以进行重建。手术使她在进入小学前外斜视有了明显改善。过去关于该综合征中枢神经系统异常的报道很少，但我们的病例中发现了胼胝体发育不全。本文报告了我们的发现，并结合文献进行了一些讨论。
