| dc.contributor | Gutiérrez-Amavizca, B.E., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico, Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico; Brambila-Tapia, A.J.L., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico, Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico; Juárez-Vázquez, C.I., Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico, División de Medicina Molecular, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico; Holder-Espinasse, M., Service de Genetique Clinique, Hopital Jeanne de Flandre, CHRU de Lille, France; Manouvrier-Hanu, S., Service de Genetique Clinique, Hopital Jeanne de Flandre, CHRU de Lille, France; Escande, F., Laboratoire de Biochimie et Biologie Moléculaire CHRU de Lille, Centre de Biologie et Pathologie, France; Barros-Núñez, P., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico | |
| dc.description.abstract | Brachydactyly type C (BDC), a well-recognized autosomal dominant hand malformation, displays brachymesophalangy of the second, third, and fifth fingers, a short first metacarpal, hyperphalangy, and ulnar deviation of the index finger. An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. BDC and ASPED result from mutations in the CDMP1 gene. We report here a Mexican patient with BDC and clinical features of ASPED who carries a novel mutation in CDMP1, confirming that BDC and ASPED are part of the CDMP1 mutational spectrum. Based on the large number of clinical features in common, we suggest that both anomalies are part of the same clinical spectrum. Supported by an extensive review of the literature, a possible genotype-phenotype correlation in the mutational spectrum of this gene is proposed. © 2012 Elsevier Masson SAS. | |
