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Oral-facial-digital syndrome type I in a newborn male

✍ Scribed by Gillerot, Yves ;Heimann, Marianne ;Fourneau, Catherine ;Verellen-Dumoulin, Christine ;Van Maldergem, Lionel


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
383 KB
Volume
46
Category
Article
ISSN
0148-7299

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Discordance of oral-facial-digital syndr
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The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and mo

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## Abstract The oral‐facial‐digital syndromes (OFDS) are a heterogeneous group. Recently, Gurrieri et al. [1992: Am J Med Genet 42:789–792] described a new OFDS characterised by typical oral, facial and digital abnormalities but distinguishable from previously reported OFDS by the presence of retin