[Tetra-X syndrome with epilepsy, mental retardation and multiple dysmorphias].
It is reported on a 21-year-old female with super-female syndrome in association with an early childhood brain damage exhibiting idiopathic epilepsy, severe oligophrenia, emotional instability, Little syndrome, areflexia of the legs, strabismus, telecanthus, broad nose, epicanthic fold, clinodactyly of little fingers, radio-ulnar-synostosis, retardation of ossification, aortic insufficiency, erythro-cyanosis, one-side clubfoot and nephrosclerosis, also menstrual cycle dysfunction.
Fehlow
P
P
Landesfachkrankenhaus für Psychiatrie und Neurologie, Mühlhausen/Thür.
Miosge
W
W
Walther
F
F
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D009460:Neurologic Examination; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
Tetra X-Syndrom mit Epilepsie, geistiger Behinderung und multiplen Dysmorphien.