Hypertrichosis cubiti (hairy elbows) and short stature: A recognisable association

Abstract

We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were non-specific and biochemical investigations were normal. Of the four other published cases, two were sporadic and of normal height. The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome. We were unable to ascertain whether hypertrichosis cubiti cosegregates with the same type of skeletal dysplasia or elucidate the type of genetic transmission of hypertrichosis cubiti alone.