Concomitance of types D and E brachydactyly: a case report

摘要

Here, we present of a 35-year old female diagnosed with an overlapping form of non-syndromic brachydactyly types D and E with phenotypic and radiological signs. There was observed to be shortening in the right hand metacarpal of 3rd and 4th fingers and left hand metacarpal of 4th finger and left foot metatarsal of 4th toe. There was also shortening of the distal phalanx of the thumbs and thoracic kyphosis. The syndromic form of brachydactyly type E is firmly associated with pseudo-hypopthyroidism as resistance to pthyroid hormone is the most prominent feature. As the patient had normal stature, normal laboratory parameters and no psychomotor developmental delay, the case was classified as isolated E type brachydactyly.