Variations in expression of oral–facial–digital syndrome (type I): report of two cases
✍ Scribed by T. Driva; D. Franklin; P. J. M. Crawford
- Book ID
- 108828982
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 148 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0960-7439
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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
Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities a