AUTOSOMAL RECESSIVE PETERS ANOMALY, TYPICAL FACIAL APPEARANCE, FAILURE-TO-THRIVE, HYDROCEPHALUS, AND OTHER ANOMALIES - FURTHER DELINEATION OF THE KRAUSE-KIVLIN SYNDROME
AUTOSOMAL RECESSIVE PETERS ANOMALY, TYPICAL FACIAL APPEARANCE, FAILURE-TO-THRIVE, HYDROCEPHALUS, AND OTHER ANOMALIES - FURTHER DELINEATION OF THE KRAUSE-KIVLIN SYNDROME
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DOI：
10.1002/ajmg.1320400107
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发表时间：
1991-07-01
期刊：
影响因子：
--
通讯作者：
VARSANO, I
中科院分区：
文献类型：
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作者：
FRYDMAN, M;WEINSTOCK, AL;VARSANO, I
两个堂兄弟和一个无关的病人，都是近亲父母的后代，表现为彼得斯异常，不寻常的面部外观，不成比例的身材矮小，骨骼发育迟缓，和不同程度的智力迟钝。存在各种手指、心脏、CNS和泌尿生殖系统异常。遗传可能是常染色体隐性遗传。这种情况是一个独特的临床实体，我们建议命名为Krause-Kivlin综合征。Peters异常被认为是由神经嵴细胞的异常迁移引起的。类似的机制也涉及其他前房疾病的发病机制。Peters异常的存在，以及新生儿可能存在的其他角膜内皮疾病，应提醒临床医生注意这种综合征的可能性。在两名患者中记录了交通性脑积水（或脑萎缩）和羊水过多，可能允许在继发性家族病例中进行产前诊断。
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.