The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.
Three cases are reported of a lethal multiple congenital anomaly syndrome. The infants had moderate limb shortening, joint contractures, polydactyly, and the two with male karyotypes had female external genitalia. Internal anomalies included unilobular lungs, hypoplasia of the anterior portion of the tongue, and renal hypoplasia.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D012734:Disorders of Sex Development; D005260:Female; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000473:pathology; D008168:Lung / Q000002:abnormalities