Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads.
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.
División de Genética, Centro de Investigation Biomédica de Occidente, Coordinatión de Investigación Medica, Guadalajara, México.
A
A
Hernández
Z
Z
Nazara
M C
MC
Reynoso
L A
LA
Lizcano-Gil
R
R
Lopez
A
A
Sarralde
R
R
Fragoso
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D004838:Epiphyses / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005270:Femur Head / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography