Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects

Houlston et al. (1994) described male and female sibs born of healthy nonconsanguineous Caucasian parents, with a combination of malformations that included atrioventricular septal defect, blepharophimosis, and anal and radial defects. The boy was the second born of a 32-year-old mother and 36-year-old father. Atrioventricular septal defect and tetralogy of Fallot were detected immediately after birth and corrected surgically. Blepharophimosis, convergent squint, up-slanting palpebral fissures, small simple ears, and micrognathia were noted. Fifth finger clinodactyly was present and the anus was anteriorly placed. The second affected child was born 2 years later. She had a secundum type atrial septal defect and a tiny ventricular septal defect. Blepharophimosis was more pronounced than in case 1 and microphthalmia was present. The ears were simple and cup-shaped. In the right forearm the radius was aplastic, the ulna was shortened, and the first metacarpal and thumb were absent. On the left there was a vestigial thumb represented only by soft tissue. The anus was imperforate and there was a rectovaginal fistula. Houlston et al. (1994) listed various reasons for concluding that the disorder in these sibs is distinct from that in several other syndromes with overlapping manifestations. The inheritance is presumably autosomal recessive.