Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome?

Abstract

We report on a brother and sister with epiphyseal dysplasia and coxa vara, microcephaly, and short stature. This constellation of findings similar to that found in the Lowry-Wood syndrome (Epiphyseal dysplasia, microcephaly, short stature, and mental retardation). In the sibs we describe, mental retardation is not apparent, and they have the additional finding of developmental coxa vara. Despite these 2 exceptions, this family probably represents the same disorder described by Lowry and Wood (Clinical Genetics 8:269-274, 1975), and serves to expand the spectrum of the syndrome to include coxa vara. It is also possible that these sibs represent a previously undescribed syndrome, most likely with autosomal recessive inheritance.