Publikace na 1. lékařská fakulta |
2021
Abstrakt
Our present case demonstrates how the co-occurrence of different genetic disorders can result in a mixture of clinical features and make an elucidation of genotype-phenotype correlations more difficult. There is a significant overlap in many clinical features of both of these genetic abnormalities in our patient (developmental delay, intellectual disability, behavioral problems, and others such as hypermobility).
Whereas tall stature and amenorrhea can likely be attributed to the TXS, dystonia (along with dystonic tremor) as well as hand stereotypies are novel observations, described neither in the context of TXS nor in SATB1-associated disease.