Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: Two additional cases that expand the phenotype to a more generalized effect on blastogenesis
✍ Scribed by Martínez-Frías, M. L.; Arroyo, I.; Bermejo, E.; Espinosa, J.; García, M. J.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 35 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report on 2 unrelated fetuses with a multiple congenital anomaly pattern of severe limb deficiencies, vertebral/rib alterations, and mirror polydactyly similar to that described previously by us [Urioste et al., Hum Genet 97:214-217, 1996]. In addition, the two cases we present here have a more extense alteration of blastogenesis, expanding the phenotype of the cases previously reported. We have suggested [Urioste et al., Hum Genet 97:214-217, 1996] that this condition may be caused by a mutation in a developmental control gene that affects body-plan organization. The minimal estimate of the prevalence of this new entity in our population (the Spanish Collaborative Study of Congenital Malformations, ECEMC) is 3.0/ 1,000,000 live births.