Alves A F, dos Santos P A, Castelo-Branco-Neto E, Freire-Maia N
Am J Med Genet. 1981;10(3):213-8. doi: 10.1002/ajmg.1320100303.
We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.
我们描述了一名20岁女性，患有全身性毛发发育异常、伴有鳞屑的干性皮肤、四肢色素沉着斑、角化过度（足底尤为明显）、皮纹异常、甲发育异常、身材矮小、脊柱后凸侧弯、面容异常、四肢轻度畸形、双侧核性白内障、睑裂狭小、睑内翻、倒睫等。这种情况可能由常染色体隐性基因引起。该患者是父母为二级表亲的四个同胞中唯一受影响的成员。
