Sarda Prayas, Vagha Keta, Kenjale Sneha, Singh Kushagra, Wazurkar Ajinkya, Ganvir Shubhangi Patil, Huse Shreyash, Ghulaxe Yash
Medicine and Surgery, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Cureus. 2022 Oct 27;14(10):e30760. doi: 10.7759/cureus.30760. eCollection 2022 Oct.
An uncommon autosomal dominant condition known as Crouzon's syndrome causes abnormalities of the skull and face. It accounts for 4.8% of all cases of craniosynostosis and is by far the most prevalent condition among them. The fibroblast growth factor receptor-2 (FGFR-2) gene mutation that leads to early suture line closure is the basis for the development of Crouzon's syndrome. It appears as a copper-beaten skull on radiographs, which may indicate a disruption of the brain's normal growth due to elevated intracranial pressure. This report describes a case of a four-year-old kid who exhibits the typical symptoms of Crouzon's syndrome like craniosynostosis, hypertelorism, and flattened nasal bridge. We also make an effort to investigate the connection between Crouzon syndrome and the emergence of a copper-beaten skull and related factors.
一种罕见的常染色体显性疾病，称为克鲁宗综合征，会导致颅骨和面部异常。它占所有颅缝早闭病例的4.8%，是目前其中最常见的病症。导致早期缝线闭合的成纤维细胞生长因子受体2（FGFR - 2）基因突变是克鲁宗综合征发病的基础。在X线片上表现为铜锤状颅骨，这可能表明由于颅内压升高导致大脑正常生长受到干扰。本报告描述了一名4岁儿童的病例，该儿童表现出克鲁宗综合征的典型症状，如颅缝早闭、眼距过宽和鼻梁扁平。我们还努力研究克鲁宗综合征与铜锤状颅骨出现之间的关联及相关因素。
