Fryns syndrome.
We report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot.
Stratton
R F
RF
South Texas Genetic Center, San Antonio 78229.
Young
R S
RS
Heiman
H S
HS
Carter
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D003964:Diaphragm / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics