The familial co-occurrence of tetralogy of Fallot and glaucoma suggests a shared developmental abnormality of the neural crest with an autosomal dominant inheritance pattern.
May prompt cardiac screening in offspring of glaucoma patients; leaves open confirmation of autosomal dominant neural crest inheritance.
All 3 daughters of a mother with glaucoma had a conotruncal abnormality of the heart and glaucoma. The presence of heart and eye anomaly may be coincidental; however, both may be related to abnormal development of neural crest. The pedigree suggests autosomal dominant inheritance in this family.
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Chen et al. (1990) studied this question.
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