Abstract
Three male siblings dying within the first twenty-four hours of life suffered from hyperkeratosis, digital bands, knee and elbow flexion, thrombocytopenia, progressive anemia, heart block, cardiomegaly, hepatomegaly, and hypoglycemia. The hyperkeratosis spared only the craniofacial area and caused thick, slightly cracking skin over the rest of the body. Symmetrical hyperkeratotic bands constricted each finger and toe at the mid-point of the first and second phalanx causing swollen digital tips. The non-specific anemia required transfusions in two of the children while the thrombocytopenia was responsible for an intraventricular hemorrhage in one child. First and second degree heart block was present in each child. Death occurred after prolonged apnea and bradycardia in each case. Post-mortem findings showed very abnormal livers with fibrosis, disarray of liver cords, and hemorrhage. Although some of the children's features can be found in the harlequin fetus, the differences are sufficient enough to suggest that the three boys represent a newly recognized inherited syndrome.
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Hall, B., Grumbach, M. FATAL FAMILIAL FETAL HYPERKERATOSIS. Pediatr Res 8, 439 (1974). https://doi.org/10.1203/00006450-197404000-00596
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DOI: https://doi.org/10.1203/00006450-197404000-00596