Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypoplasia syndrome has a broad phenotype and it is caused by homozygous or compound heterozygous mutation in the mitochondrial RNA-processing endoribonuclease on chromosome 9p13. Although it is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. To add further details to the knowledge of the phenotypic spectrum of the disease, we report on two siblings with cartilage hair hypoplasia syndrome, presenting n.64C > T homozygous mutation in the mitochondrial RNA-processing endoribonuclease gene. We describe the prenatal and postnatal growth pattern of the two affected patients, showing severe pre- and post-natal growth deficiency.

软骨毛发发育不全综合征（OMIM＃250250）是一种罕见的常染色体隐性干meta端发育异常，其特征是身材矮小，毛发发育不全和各种骨骼外表现，包括免疫缺陷，贫血，肠道疾病和易患癌症。软骨毛发发育不全综合征具有广泛的表型，是由9p13染色体上线粒体RNA处理内切核糖核酸酶的纯合子或复合杂合子突变引起的。尽管它被称为原始侏儒症，但缺少关于产前生长的描述。为了进一步了解该疾病的表型谱，我们报道了两个患有软骨毛发育不全综合征的兄弟姐妹，他们在线粒体RNA加工核糖核酸内切酶基因中出现了n.64C> T纯合突变。