Shapira S K, Neish A S, Pober B R
Division of Genetics, Children's Hospital, Boston, MA 02115.
J Med Genet. 1992 Jul;29(7):509-10.
We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.
我们报告了近亲结婚父母的男性和女性同胞,其特征包括扭曲毛发,伴有异常的毛干电子显微镜(EM)表现、生长发育迟缓以及轻度至中度神经异常。本文所呈现病例的特征在先前报道的可能出现扭曲毛发的临床综合征中未曾被提及。