Woods C G, Leversha M, Rogers J G
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Australia.
J Med Genet. 1995 Apr;32(4):301-5. doi: 10.1136/jmg.32.4.301.
We report an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. The initial diagnosis was of Seckel syndrome. He became pancytopenic at 16 months and died soon after. His bone marrow was of normal cellularity but had a small lymphocyte infiltration. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C induced chromosome damage was increased and comparable to that seen in Fanconi anaemia. Reports of similar patients are reviewed. This entity of severe intrauterine growth retardation and increased mitomycin C sensitivity is hypothesised to be a distinct chromosome breakage syndrome.
我们报告了一名患有产前和产后小头畸形、生长发育迟缓、面容独特及发育迟缓的婴儿。最初诊断为塞克尔综合征。他在16个月时出现全血细胞减少，并于不久后死亡。其骨髓细胞数量正常，但有小淋巴细胞浸润。在血液和成纤维细胞中可见自发染色体断裂增加。丝裂霉素C诱导的染色体损伤增加，且与范可尼贫血所见相似。对类似患者的报告进行了综述。这种严重的宫内生长迟缓及丝裂霉素C敏感性增加的情况被推测为一种独特的染色体断裂综合征。
