Abstract：
Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features, brachydactyly, symphalangism and cutis laxa. Nineteen cases have been reported in the literature so far, eleven of them with PTDSS1 mutations. Although studies have had clinically similar findings, in some cases the authors have reported even rarer features such as hydrocephalus, facial paralysis, and cleft palate. We, hereby, report the case of the first patient with Lenz-Majewski syndrome (LMS) with molecular confirmation from Turkey. Although our patient had characteristic features described in the literature, she also had immunodeficiency, which has not been reported before. Although there is no established phenotype-genotype correlation, molecular mechanisms can be explained with the reporting of more patients.
摘要：
Lenz-Majewski矮小症（LMHD）是一种罕见的以智力残疾为特征的疾病，硬化性骨发育不良,畸形面部特征，Brachydactyly,共生和皮肤松弛。到目前为止，文献中已经报道了19例病例，其中11例具有PTDSS1突变。尽管研究有类似的临床发现，在某些情况下，作者甚至报道了更罕见的特征，如脑积水，面瘫,和腭裂.我们,特此,报告第一例Lenz-Majewski综合征（LMS）患者，来自土耳其。尽管我们的患者具有文献中描述的特征性特征，她也有免疫缺陷,以前没有报道过。虽然没有确定的表型-基因型相关性，分子机制可以用更多患者的报告来解释。
