Oral-facial-digital syndrome type I in a newborn male
β 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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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
## Abstract The oralβfacialβdigital syndromes (OFDS) are a heterogeneous group. Recently, Gurrieri et al. [1992: Am J Med Genet 42:789β792] described a new OFDS characterised by typical oral, facial and digital abnormalities but distinguishable from previously reported OFDS by the presence of retin