RESUMO
In this work the authors describe two cases of Coffin-Lowry syndrome, diagnosed in two brothers of different age and with a different degree of evolution of the illness. The brothers present the mitral prolapse association. The clinic and instrumental examination have been executed. The various pathogenetic hypothesis have been discussed and the authors propose the most recent that considers the fibroblast incapable to produce the substances of connective matrix. This hypothesis explain also the evolution and the progression of the lesion at the interested organs (skin, joints, bones, heart). The illness is genetic, with a X-linked, semidominant transmission.
Assuntos
Anormalidades Múltiplas/genética , Osso e Ossos/anormalidades , Deficiência Intelectual/genética , Adolescente , Criança , Ossos Faciais/anormalidades , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Humanos , Masculino , Síndromes Orofaciodigitais/genética , Linhagem , Escoliose/genética , SíndromeRESUMO
This study describe a case of SNC malformation that belongs to the prosencephalization defects. Particularly, the degree of cerebral anomalies and the gravity of facial abnormalities place the case in the group of Holotelencephalies. We have considered the ethiopathogenetic connections that can cause such embryonic damage, the clinical characteristics, the evolution and the prognosis, by the light of the dates provided by literature. Our patient is a six month-old female put under observation since her birth.
