Hyaline fibromatosis syndrome is an extremely rare autosomal recessive condition caused by biallelic pathogenic variants in the ANTXR2 gene that leads to abnormal growth of hyalinized fibrous tissue. Severity ranges from life-threatening intractable diarrhea, recurrent infection, and acute pain to milder disease resulting in skin lesions and less severe contractures. Here, we report the case of a 3-month-old female who presented with joint contractures and severe pain followed by failure to thrive. Diagnosis via ultra-rapid whole genome sequencing allowed our team to provide appropriate care and anticipatory guidance for this patient and family.

中文翻译：

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全基因组测序诊断透明纤维瘤病综合征

透明纤维瘤病综合征是一种极其罕见的常染色体隐性遗传疾病，由 ANTXR2 基因双等位基因致病性变异引起，导致透明纤维组织异常生长。严重程度从危及生命的顽固性腹泻、反复感染和急性疼痛到导致皮肤损伤和不太严重的挛缩的轻微疾病。在这里，我们报告了一名 3 个月大的女性的病例，她出现关节挛缩和剧烈疼痛，随后发育迟缓。通过超快速全基因组测序进行诊断使我们的团队能够为该患者及其家人提供适当的护理和预期指导。