Hernández A, Nazara Z, Reynoso M C, Lizcano-Gil L A, Lopez R, Sarralde A, Fragoso R
División de Genética, Centro de Investigation Biomédica de Occidente, Coordinatión de Investigación Medica, Guadalajara, México.
Genet Couns. 1996;7(3):187-91.
A father and son with unusual congenital skeletal symptoms, mainly characterized by short stature and epiphyseal dysplasia limited to the femoral heads are described. The comparative analysis with other spondyloepiphyseal dysplasias supports the notion that the syndrome reported here is a distinct autosomal dominant connective tissue disorder.
