| dc.contributor | Dávalos, I.P., Division de Genética, CIBO, CMNO, Jalisco, Mexico, CUCS, Universidad de Guadalajara, Mexico, División de Genética, CMNO, Centro de Investigación Biomédica de Occidente, Apartado Postal 1-3838, Guadalajara, Jalisco, Mexico; García-Cruz, D., Division de Genética, CIBO, CMNO, Jalisco, Mexico, CUCS, Universidad de Guadalajara, Mexico; García-Cruz, M.O., Clínica de Labio y Paladar Hendido, HGR No. 46, Mexico; Ramírez-Dueñas, M.L., Division de Genética, CIBO, CMNO, Jalisco, Mexico, CUCS, Universidad de Guadalajara, Mexico; Solis-Cámara, P., Division de Psicología, CIBO, CMNO, Jalisco, Mexico; Correa-Cerro, L.S., Division de Genética, CIBO, CMNO, Jalisco, Mexico, CUCS, Universidad de Guadalajara, Mexico; Perez-Rulfo, D., Servicio de Neurología, Hospital Civil de Guadalajara, Guadalajara, Jalisco, Mexico; Sánchez-Corona, J., Division de Medicina Molecular, CIBO, CMNO, Jalisco, Mexico, CUCS, Universidad de Guadalajara, Mexico | |
| dc.description.abstract | Zimmermann-Laband syndrome: further clinical delineation: Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, hypertrichosis and sometimes mental retardation. We describe two unrelated patients, a girl aged 9 years and a boy 11 months whose clinical and radiological findings permit us to diagnose the ZLS. Body overgrowth, present in both patients, was identified as a main clinical feature not previously reported as well as the presence in neuroimaging studies of a cavernous hemangioma on the frontal and the left cerebellar regions in the boy. The girl also presented important radiological characteristics such as broad medulary canals and metaphyses of long bones, thin cortices, broad ribs, accelerated skeletal maturation as well as high intelligence level. A wide clinical spectrum in ZLS is also considered. | |
