克魯仲氏徵候群是先天頭蓋骨和臉部頭發育異常,造成頭蓋骨畸形,臉部畸形及凸眼的表徵。遺傳方式絕大多數是體染色體顯性遺傳。克魯仲氏徵候群由於頭蓋骨骨縫早期癒合,有著各種畸形怪狀的頭形之外,並且影響到腦部神經的發育,常併發腦神經症候。頭蓋骨發育異常連帶影響眼框股骨頭的發育,同時臉部上額骨發育不良,使整個眼框體積很小,眼球裝在小的眼框中顯得很凸出,常併發兩眼距離過寬,斜視,視神經萎縮等毛病。本篇報告一例罕見的家族性顯性遺傳造成的克魯仲氏徵候群之家族病例,一家三代五個人有著輕重不一的症狀。
Crouzon craniofacial dysostosis syndrome is charaterized by craniosynostosis, maxillary hropoasia, shallow orbits oculcr proptoisi. The majority of cases are heredifary as an autosomal dominant with varable expreddibil-ity. Optic atrphy is frtquent and is often attrubuted to intracranial hypertension, traction on the optic on the optic nerve, and transvers narrowing of the optic foramina. We present the case case of a family gustiry of history of Crouzon Symrome. There were five members of three generations suffered from Crouzon Syndrome.