SNOMEDCT: 1179328008;
Say et al. (1971) described coxa vara in 5 members of 3 generations of a family in Cyprus. The proband was a 4-year-old boy who was examined for a 'waddling gait.' Physical examination revealed no abnormality except restriction of abduction of the hips. X-rays showed the femoral neck shaft angle to be 110 degrees. No other skeletal abnormalities were found. The proband's father and paternal grandmother showed the same abnormality. Seven additional members on the paternal side were studied, 4 of whom had a waddling gait and showed decreased neck shaft angles, although in 2 of them the angles were about 120 degrees. In none was there any evidence of a generalized skeletal disorder. X-rays of the mother and sister of the proband revealed no abnormality. In an addendum, Say et al. (1971) stated that they had found several other families in Cyprus segregating isolated coxa vara as an autosomal dominant trait.
Affected identical twins were reported by Martin (1942), and father, daughter, and niece by Almond (1956).
The pedigree pattern in the family with isolated coxa vara reported by Say et al. (1971) was consistent with autosomal dominant inheritance.
Almond, H. G. Familial infantile coxa vara. J. Bone Joint Surg. Br. 38: 539-544, 1956. [PubMed: 13332001] [Full Text: https://doi.org/10.1302/0301-620X.38B2.539]
Martin, H. Coxa vara congenita bei eineiigen Zwillingen. Arch. Orthop. Clin. 42: 230-240, 1942.
Say, B., Tuncbilek, E., Pirnar, T., Tokgozoglu, N. Hereditary congenital coxa vara with dominant inheritance? Humangenetik 11: 266-268, 1971. [PubMed: 5101666] [Full Text: https://doi.org/10.1007/BF00274749]