Frydman M, Weinstock A L, Cohen H A, Savir H, Varsano I
Department of Pediatrics, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel.
Am J Med Genet. 1991 Jul 1;40(1):34-40. doi: 10.1002/ajmg.1320400107.
Two cousins and an unrelated patient, all offspring of consanguineous parents, presented with Peters anomaly, unusual facial appearance, disproportionate short stature, retarded skeletal maturation, and a variable degree of mental retardation. Variable digital, cardiac, CNS, and urogenital anomalies were present. The inheritance is probably autosomal recessive. The condition is a distinct clinical entity for which we suggest the eponym Krause-Kivlin syndrome. Peters anomaly is thought to result from abnormal migration of neural crest cells. A similar mechanism was implicated in the pathogenesis of other disorders of the anterior chamber. The presence of Peters anomaly, and possibly of other corneal endothelial disorders in a newborn infant, should alert the clinician to the possibility of this syndrome. Communicating hydrocephalus (or brain atrophy) and polyhydramnios were documented in two patients, potentially allowing prenatal diagnosis in secondary familial cases.
两名堂兄弟和一名无血缘关系的患者，均为近亲结婚父母的后代，表现出彼得斯异常、特殊面容、身材比例失调的矮小、骨骼成熟延迟以及不同程度的智力发育迟缓。还存在多种手指、心脏、中枢神经系统和泌尿生殖系统异常。遗传方式可能为常染色体隐性遗传。这种病症是一种独特的临床实体，我们建议将其命名为克劳斯 - 基夫林综合征。彼得斯异常被认为是神经嵴细胞异常迁移所致。类似机制与前房其他病症的发病机制有关。新生儿出现彼得斯异常以及可能的其他角膜内皮病症，应提醒临床医生注意该综合征的可能性。两名患者记录有交通性脑积水（或脑萎缩）和羊水过多，这可能有助于继发性家族病例的产前诊断。
