Hereditary Bovine Syndactyly: Diagnosis in Bovine Fetuses

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Abstract
Diagnostic guidelines were established for progeny testing of hereditary bovine syndactyly. Through the use of superovulation and embryo transfer, 139 fetuses were recovered at 50 to 77 days gestation. Normal (+/+, +/sy) and syndactylous (sy/sy) anatomy of Holstein fetuses was denned, and the accuracy of macroscopic versus microscopic limb diagnosis was assessed. Chondrification and ossification differences between normal (+/+, +/sy) and syndactylous (sy/sy) fetuses were only age-related. Normal (+/+, +/sy) fetal limbs differed from normal (+/+, +/sy) adult bovine limbs in two ways. Fetal metacarpal and metatarsal III and IV bones were not fused, and fetal metacarpal and metatarsal II and V bones often extended up to three-fourths the length of metacarpal and metatarsal III and IV bones. In syndactylous (sy/sy) fetuses, synostosis asymmetries occurred within and between fetal limbs, and between fetuses, representing variable gene expressivity. Synostosis pattern within limbs did not correspond with those of the adult bovine; the second phalangeal pair was synostotic most frequently in the fetus, followed by the first, and then the third pair. Synostosis patterns between fetal limbs agreed with those of the adult; there was a right-left and front-rear limb gradient. Partial synostoses occurred sporadically in all three paired phalanges. Those of the first and third pair always involved the tip closest to the second phalangeal pair. A unique example of variable gene expressivity occurred in one syndactylous fetus. Both front limbs were syndactylous, while both rear limbs were normal grossly. Microscopically the right rear limb was normal while the left rear limb consisted of closely apposed phalangeal blastemata without coalescence. This supported the theory that syndactyly resulted from fusion rather than nondivision of blastemata. There was not 100% accuracy in macroscopic limb diagnosis of fetuses derived from progeny testing for bovine hereditary syndactyly; discrepencies occurred in limbs with partial phalangeal synostoses and in the limb with closely apposed phalangeal blastemata. Therefore, it is recommended that all fetuses undergo macroscopic and microscopic limb examination before a final diagnosis is reached and recommendations for breeding programs are made.