Abstract
Two siblings with a new association of multiple congenital anomalies were observed. These children, a boy and a girl, are the offspring of normal parents and they have one normal older brother. Both cases were admitted to Columbus Children's Hospital as neonates because of corneal clouding. Complete evaluation demonstrated the following anomalies: partial aniridia, congenital glaucoma, unilateral renal agenesis, frontal bossing, telecanthus and hypotonia. Both children have been observed over a period of 3 years (the boy) and 1 year (the girl). Despite accounting for visual handicap, the sibs have achieved all significant milestones 2-6 months later than can be expected. They resemble each other in physical appearance, but do not resemble either parent or their older brother.
A marker chromosome not thought to be associated with the anomalies is carried in this family. The father and both affected reported have one D group chromosome with enlarged satellites. Although the children have a clinical resemblance to the cases recently reported by DeHauwere, renal agenesis did not occur in DeHauwere's patients. The postulated mode of inheritance in our family is autosomal recessive and DeHauwere reported an autosomal dominant syndrome.
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Summer, A., Rathbun, M., Battles, M. et al. ANOTHER “MULTIPLE CONGENITAL ANOMALIES” SYNDROME - THE W. FAMILY. Pediatr Res 8, 442 (1974). https://doi.org/10.1203/00006450-197404000-00611
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DOI: https://doi.org/10.1203/00006450-197404000-00611