Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son

Am J Med Genet. 1997 Dec 12;73(2):227-9. doi: 10.1002/(sici)1096-8628(19971212)73:2<227::aid-ajmg21>3.0.co;2-r.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adipose Tissue
  • Child
  • Craniofacial Abnormalities*
  • Facies
  • Hand Deformities, Congenital*
  • Heart Defects, Congenital
  • Humans
  • Intellectual Disability
  • Male
  • Microcephaly
  • Middle Aged
  • Syndrome