RT Journal Article
SR Electronic
T1 The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 64
OP 71
DO 10.1136/jmg.23.1.64
VO 23
IS 1
A1 D Donnai
A1 I D Young
A1 W G Owen
A1 S A Clark
A1 P F Miller
A1 W F Knox
YR 1986
UL http://jmg.bmj.com/content/23/1/64.abstract
AB 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.