[Absence of hypoplasia of fingernails and toenails and terminal phalanges of hands and feet (author's transl)].
A case study of a female patient in which most of the fingernails and toenails and terminal phalanges of hands and feed were absent, together with retarded psychomotor development, minor mental retardation and seizures due to simple cerebral cyst, with bilateral deafness is presented. This association, similar to Coffin-Siris syndrome, is not found in the literature.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000188:drug therapy; D000818:Animals; D001927:Brain Diseases / Q000175:diagnosis / Q000188:drug therapy; D002220:Carbamazepine / Q000627:therapeutic use; D002415:Cats; D002675:Child, Preschool; D003560:Cysts / Q000175:diagnosis / Q000188:drug therapy; D003638:Deafness / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D005384:Finger Joint / Q000002:abnormalities*; D006801:Humans; D009264:Nails, Malformed; D010634:Phenobarbital / Q000627:therapeutic use; D013577:Syndrome; D014033:Toe Joint / Q000002:abnormalities*
D002220:Carbamazepine; D010634:Phenobarbital
Síndrome de ausencia de falanges distales y uñas asociada con sordera.