Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance.
Three members of a nuclear family were affected by split hands and feet or syndactyly, obstructive urinary anomalies and spina bifida or diaphragmatic defect.
Czeizel
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Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary.
Losonci
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D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003964:Diaphragm / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D016136:Spina Bifida Occulta / Q000235:genetics; D013577:Syndrome; D014513:Ureter / Q000002:abnormalities