Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Woods et al. (1995) reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. Woods et al. (1995) proposed that this infant suffered from a distinct chromosome breakage syndrome. They found at least 7 reported cases of Seckel-like intrauterine growth retardation with pancytopenia, including 2 sibs in Seckel's original publication (Seckel, 1960). Other cases were reported by Upjohn (1955) and Butler et al. (1987). Because Seckel syndrome is likely to be heterogeneous, Woods et al. (1995) preferred to refer to the disorder they reported as 'severe intrauterine growth retardation with increased mitomycin C sensitivity.'