Plasma Fibronectin Deficiency

Clinical Features

Shirakami et al. (1986) reported plasma fibronectin (135600) deficiency in 8 members of 1 family. Enzyme levels were about half-normal in the deficient persons, who were distributed in 3 generations and 4 sibships. The proband, a 31-year-old woman, had keloids at sites of surgery and burns but no other abnormalities. No keloids were found in the deficient relatives. Specifically, there was no unusual susceptibility to infections, bleeding diathesis, or hyperextensibility of joints or skin, as has been observed in a form of Ehlers-Danlos syndrome with fibronectin abnormalities (225310). There were no homozygotes, but a possible homozygote with first-cousin parents died soon after birth.

Inheritance

The pedigree pattern in the family with plasma fibronectin deficiency reported by Shirakami et al. (1986) was consistent with autosomal dominant inheritance.