HYPERTRICHOSIS CUBITI (HAIRY ELBOWS) AND SHORT STATURE - A RECOGNIZABLE ASSOCIATION
HYPERTRICHOSIS CUBITI (HAIRY ELBOWS) AND SHORT STATURE - A RECOGNIZABLE ASSOCIATION
复制标题
DOI：
10.1136/jmg.26.6.382
复制
发表时间：
1989-06-01
影响因子：
4
通讯作者：
WINTER, RM
中科院分区：
文献类型：
--
作者：
MACDERMOT, KD;PATTON, MA;WINTER, RM
我们报告四例肘关节肥大的病人，他们被转诊为矮小的调查。两名身高分别在第3百分位数和略低于第3百分位数的男性为散发病例，两名身材不成比例矮小的女性为母女。家族性病例的放射学改变是非特异性的，生化检查正常。在其他四个已发表的病例中，两个是散发的，身高正常。另外两个是身材矮小的同胞，他们的父母是Weill-Marchesani综合征的杂合子。我们无法确定肘肥厚是否与同一类型的骨骼发育不良共分离或阐明肘肥厚单独的遗传传递类型。
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 transmissior of hypertrichosis cubiti alone.