Roberts SC Phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia


Camlibel T., Mocan H., Kutlu N., Kutlu N.

GENETIC COUNSELING, vol.10, no.2, pp.157-161, 1999 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 2
  • Publication Date: 1999
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.157-161
  • Karadeniz Technical University Affiliated: No

Abstract

Roberts SC Phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia: The Roberts-SC (Pseudothalidomide) syndrome is a rare autosomal recessive disorder. We present a Roberts-SC Syndrome in a 20-day-old girl with phocomelia of the upper limbs. isolated cleft palate, micrognathia, prominent eyes, pectus excavatum, and pes equinovarus. Peripheral blood smear revealed thrombocytopenia and hypereosinophilia. Premature centromere separation in the child and also in her normal mother was noted.