Abstract
A case of Kleeblattschadel syndrome (clover leaf skull) was described.
The case was a 4 month old infant, who was born from healthy young parents. He had a grotesque trilobed skull with bulging through the sagittal suture and squamosal sutures. Further, exophthalmos, downward displaced ears, ankylosis of both elbows, deeply recessed nasal root were associated. Skull films revealed craniolacuniae, synostosis of coronal and lambdoid sutures, widely opened sagittal suture and hypoplasia of orbits. Ventriculogram showed marked dilatation of lateral ventricles. Ventriculoatrial shunt was performed. At 1 year and 8 month old, the patient visited the out patient clinic. He was mentally and physically retarded. The OFC was smaller than that of 4 month old. He was unable to stand by himself, but able to walk with assistance.
The authors reviewed 19 cases of this syndrome previously reported. This case may be the first case in Japan. A number of cases have associated anomalies in the extremities. This syndrome might be an association of severe acrocephaly and chondrodystrophy. The cause of hydrocephalus is unknown, but it is thought that the synostosis of the basilar cranial bones may obstruct the outlets of the fourth ventricle and produce hydrocephalus in the intrauterine period.
