Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, reported in the neonatal period for CS and in the evolutive one for CISS. The syndrome usually manifests at birth. The aim of this study was to report on three new patients with CS and review the Turkish patients. We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene. DNA samples of the three patients and their parents were subjected to a mutational analysis of the CRLF1 gene at the Institute of Biomedical and Genetic Research - National Research Council, Cagliari (Italy). Direct sequencing of the nine coding exons and surrounding intronic regions of CRLF1 was performed using specific primers. All three patients were found to be homozygotes for the mutation c.708_709delinsT, which leads to a frameshift in the second fibronectin type III domain (p.Pro238Argfs*6). CS should be considered in the differential diagnosis of newborns with muscle contractions, feeding and swallowing difficulties, dysmorphic facial findings, camptodactyly, and hypertermia. Neonatologists must be aware of this syndrome that, although very rare worldwide, has a higher prevalence in Turkey.

中文翻译：

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土耳其家庭中Crisponi综合征的新病例系列，并复习文献。

Crisponi综合征/感冒出汗综合征（CS / CISS）是一种罕见的常染色体隐性遗传病，具有复杂的表型，在CS的新生儿期和CISS的进化期都有报道。该综合征通常在出生时表现出来。这项研究的目的是报告三名新的CS患者并审查土耳其患者。我们在这里报告了来自两个相关家庭的三名患者，他们在细胞因子受体样因子-1（CRLF1）基因中具有纯合突变。这三名患者及其父母的DNA样本在卡利亚里（意大利）国家研究委员会的生物医学和遗传研究所进行了CRLF1基因的突变分析。使用特定引物对CRLF1的9个编码外显子和周围的内含子区域进行直接测序。发现所有三名患者都是突变c.708_709delinsT的纯合子，其导致第二个纤连蛋白III型结构域（p.Pro238Argfs * 6）移码。鉴别诊断为肌肉收缩，进食和吞咽困难，面部畸形，Camtodactyly和足月早产的新生儿应考虑使用CS。新生儿学家必须意识到这种综合征，尽管这种综合征在世界范围内非常罕见，但在土耳其的患病率更高。