Pulmonary and diaphragmatic agenesis: report of affected sibs.
We report on two sibs with pulmonary and diaphragmatic agenesis, a rare combination of malformations. We conclude that this represents a previously undescribed autosomal recessive condition affecting either multiple developmental fields or a single complex polytopic field.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male