Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?
We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).
Morán-Barroso
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V
Servicio de Genética, Hospital General de México, SSa. Facultad de Medicina, UNAM, Mexico.
Valdés Flores
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M
García-Cavazos
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R
Kofman-Alfaro
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S
Saavedra-Ontiveros
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D
D000015:Abnormalities, Multiple / Q000235:genetics; D002535:Cerebral Aqueduct / Q000002:abnormalities; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008591:Meningomyelocele / Q000235:genetics; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000235:genetics* / Q000473:pathology; D017689:Polydactyly / Q000235:genetics; D014059:Tongue / Q000002:abnormalities