Brief clinical report: syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son.
We report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus. In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic findings including flared metaphyses of long bones and osteopenia.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D008297:Male; D008875:Middle Aged; D013285:Strabismus / Q000235:genetics*; D013577:Syndrome