Screening for red blood cell sorbitol dehydrogenase deficiency in patients with diabetes or cataracts.

Quantitative screening for red blood cell sorbitol dehydrogenase (RBC-SORD) deficiency in 111 patients with juvenile onset diabetes, 92 patients with adult onset diabetes, 42 patients with idiopathic cataracts and 192 professional blood donors was performed. A wide variability in RBC-SORD activity in controls and patients was observed. No significant differences in SORD activity either between patients with diabetes and patients with idiopathic cataracts or between diabetics with and without cataracts were observed.

A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly.

A distinct probably autosomal recessive syndrome was ascertained in a 17-year-old boy and his deceased sister. The main features were cardiac dysplasia, peculiar facies, central bilateral (mesoaxial) hexadactyly, synmetacarpalia, short stature, ocular torticollis, and delayed puberty.