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.
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - Dec 12 1997|
- Autosomal dominant inheritance
- Progeria syndrome
- Tetralogy of Fallot
ASJC Scopus subject areas