Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son
โ Scribed by Giannotti, Aldo; Digilio, Maria Cristina; Mingarelli, Rita; Marino, Bruno; Dallapiccola, Bruno
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 23 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971212)73:2<227::aid-ajmg21>3.0.co;2-r
No coin nor oath required. For personal study only.
โฆ Synopsis
We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. To our knowledge, this syndrome has not been described previously.
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