Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities.
In a family of 11 persons in three generations six had Ebstein's anomaly. Five of the six showed mild skeletal anomalies--that is, restricted finger extension, with or without limitation of larger joints, and externally rotated little toes. Two other members of the family had the skeletal features without Ebstein's anomaly. The findings suggest a dominantly inherited syndrome of Ebstein's anomaly and skeletal abnormalities. The four female patients were all mildly affected whereas three of the four male patients were severely affected.
Balaji
S
S
Department of Paediatric Cardiology, Southampton General Hospital.
Dennis
N R
NR
Keeton
B R
BR
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004437:Ebstein Anomaly / Q000235:genetics* / Q000473:pathology; D005260:Female; D005384:Finger Joint / Q000002:abnormalities / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014033:Toe Joint / Q000002:abnormalities / Q000473:pathology