ABSTRACT

Adams Oliver syndrome, has been described by Adams and Oliver in 1945. Original definition, along with Aplasia cutis congenita syndrome and limb defects, has neurological and cardiologi-cal problems. In the first description, genetic defect passes variable autosomal dominant pattern. Afterwards the autosomal recesive and sporodic cases were published. None of our patient’s family members showed any of the syndromic findings. With these characteristics we decided her as a sporodik Adams Oliver syndrome. 13 years old female patient complained of an area of alopecia admitted to our clinic. Further tests, bone defects in the adjacent calvarium, 2.web simple, incomplate syndactilies at both lower ex-tremity, all second phalanges were dismorfed, the interphalangial joints were absent and the nails were dystrophic also. These findings typically defined the features of the syndrome. Only 32 cases reported in the literature as sporodic is available. In our study, we tried to identify this rare syn-drome.