Abstract
Background: Heterozygous mutations of COL4A1 gene lead to aut.-dom. handed diseases with variable clinical spectrum. Due to connective tissue disruption different organic systems are involved. A complex of symptoms including developmental disorders, cerebral, ocular and renal malformations, seizures as well as perinatal intracranial hemorrhage of unknown origin in term newborns could indicate COL4A1-associated diseases. In addition, autosomal dominant familiar porencephalia and hereditary angiopathy with nephropathy, aneurysm und muscle cramps (HANAC syndrome) belong to the spectrum of these mutations. Here, we report signs and clinical course of a novel COL4A1 deletion in an infant.
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