Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
Abstract
Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCAs in previous years, six new syndromes have been selected to be included in this section, aimed to make easier the recognition of syndromes with low-frequency by paediatricians and first health care physicians, particularly those of rural areas. In this Boletín, the following syndromes are included: Megalencephaly-Cutis Marmorata Telangiectatica Congenita syndrome, Van der Woude syndrome, Hay Wells syndrome, Zellweger syndrome, Jeune syndrome and Laurin-Sandrow syndrome. For each syndrome, the most important clinical characteristics, and the present knowledge on their causal factors and mechanisms involved are sumarized.N
