Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus.
Oral-facial-digital syndromes (OFDS) constitute a heterogeneous group of entities whose clinical manifestations are often overlapping. We report on a 23-week-old aborted fetus who showed a transitional phenotype between OFD II and OFD VI syndromes.
Service for Clinical Genetics and Dysmorphology, Galliera Hospital, Milan, Italy.
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D005145:Face / Q000002:abnormalities; D005260:Female; D005333:Fetus / Q000473:pathology; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D009055:Mouth / Q000473:pathology; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D011859:Radiography