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.
Camlibel
T
T
Jinemed Medical Center, Istanbul, Turkey.
Mocan
H
H
Kutlu
N
N
Kutlu
N
N
D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004480:Ectromelia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004802:Eosinophilia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013921:Thrombocytopenia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics