DOOR syndrome: report of three additional cases.
Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II.
Félix
Têmis Maria
TM
Serviçio de Genética Médica, Hospital de Clinicas de Porto Alegre, Rio Grande do Sul, Brazil. tfelix@hcpa.ufrgs.br
de Menezes Karam
Simone
S
Della Rosa
Valter Augusto
VA
Moraes
Ana Maria S Machado
AM
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D003649:Decalcification, Pathologic / Q000235:genetics; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities; D018740:Genetic Heterogeneity; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009264:Nails, Malformed; D013577:Syndrome; D014034:Toes / Q000473:pathology