小头畸形是一种少见的颅脑发育不全疾病,家族性发病者更罕见。本文报告两个家系共5例患儿。本病的临床特点是头小而尖,特殊外貌,智能严重低下,身体发育迟缓和不伴其他畸形。本文对该病的临床表现、诊断要点、病因、遗传方式及防治问题作了讨论。 Malformation is a rare cranial hypoplasia disease, familial onset are more rare. This article reports a total of 5 pediatric patients in both families. The clinical features of this disease are small and pointed head, special appearance, severe mental retardation, physical retardation and no other deformities. This article discusses the clinical manifestations, diagnosis points, etiology, genetic methods and prevention and treatment of the disease.