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DOOR syndrome: report of three additional cases.
Félix, Têmis Maria; de Menezes Karam, Simone; Della Rosa, Valter Augusto; Moraes, Ana Maria S Machado.
Clin Dysmorphol ; 11(2): 133-8, 2002 Apr.
Article in English | MEDLINE | ID: mdl-12002145

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/genetics , Bone Diseases, Developmental , Deafness , Decalcification, Pathologic , Intellectual Disability , Nails, Malformed , Child, Preschool , Deafness/genetics , Decalcification, Pathologic/genetics , Facies , Female , Fingers/abnormalities , Genetic Heterogeneity , Humans , Intellectual Disability/genetics , Male , Syndrome , Toes/pathology
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