Clinical and genetics characterisics of the Adams-Oliver syndrome (AOS) 2 new allelic variant
Adams-Oliver syndrome (AOS) - rare inherited disease, the main clinical characteristics are aplasia cutis congenital (ACC) of the scalp and terminal transverse limbs defects (TTLD). This syndrome is mostly inherited in autosomal dominant manner. The purpose of our work was to describe clinical and genetic characteristics of two patients who are appeared to be sibs in one family and both had rare autosomal dominant Adams-Oliver syndrome type 2 with new allelic variant in DOCK6 gene. In described case the proband has severe neurological symptoms as microcephaly, seizures, cerebral atrophy with hydrocephalus ex vacuo, spastic tetraparesis, and significant psychomotor retardation. However, distinct clinical symptoms were less pronounced, which is more pathognomonic to Adams-Oliver syndrome autosomal recessive type. Significant clinical intrafamilial polymorphism is detected in proband and his sister cases what is important to take into account in terms of genetic counseling.