Familial dextrocardia, divergent strabismus and situs inversus of optic disc.
A family is described in which three of four siblings have major congenital cardiac defects in association with ocular abnormalities. The eldest sibling has isolated dextrocardia and the second has total situs inversus. The fourth child has both atrial and ventricular septal defects, with pulmonary hypertension and right ventricular hypertrophy. The mother and third sibling have normal hearts but exhibit a number of ocular defects. The principal ocular anomalies demonstrated in this family are divergent strabismus, bilateral situs inversus of the optic disc, and myopia. The hereditary aspect of these multiple findings is discussed.
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003914:Dextrocardia / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006343:Heart Septal Defects / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009898:Optic Disk / Q000002:abnormalities*; D009900:Optic Nerve / Q000002:abnormalities*; D010375:Pedigree; D012857:Situs Inversus / Q000235:genetics*; D013285:Strabismus / Q000235:genetics*