Autosomal recessive acrorenal syndrome.
We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far.
Department of Pediatrics, Semmelweis Medical University, Budapest, Hungary.
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M
Miltényi
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AE
Czeizel
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L
Balogh
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Z
Detre
D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000473:pathology; D013577:Syndrome