目的 报告1例Crouzon综合征合并生长激素缺乏症（GHD）患儿及其重组人生长激素（rhGH）治疗结果。 方法 回顾分析患儿以rhGH治疗2年的临床资料。结果 患儿女性，5岁4月龄时身高98.2 cm（G（p.Ser 354 Cys）杂合变异，源自母亲，为已知的致 病变异，诊断为Crouzon综合征。同时相关检查提示患儿合并GHD。给予rhGH治疗2年，身高117 cm，平均生长速率为 9 . 4 cm/a。治疗期间，头颅磁共振监测提示侧脑室及第三脑室略扩张等表现未进展，眼科随诊示左眼视盘水肿程度较前减 轻，未发现不良反应。结论 矮小可能是Crouzon综合征的表型，rhGH治疗可以改善Crouzon综合征合并GHD患儿的身高， 且未引起患儿颅内压增高等不良反应。

Objective To explore the efficacy and safety of recombinant human growth hormone (rhGH) in Crouzon syndrome with growth hormone deficiency (GHD) in a child. Method The clinical data of Crouzon syndrome with GHD in a child treated with rhGH for 2 years were retrospectively analyzed. Results A girl with a height of 98 . 2 cm (G (p.Ser 354 Cys), which was derived from the mother and was known to be a pathogenic variation. The child was diagnosed with Crouzon syndrome. At the same time, the related examinations suggested that the child were complicated with GHD, and the rhGH therapy was given. After 2 years of treatment with rhGH, the child reached 117 cm in height with an average growth rate of 9 . 4 cm per year. During the treatment, cranial magnetic resonance imaging showed that the lateral ventricle and the third ventricle were slightly dilated and no progression. Ophthalmic follow-up showed that the degree of optic disc edema in the left eye was lessened and no adverse reactions were found. Conclusions Short stature may be a phenotype of the Crouzon syndrome. The rhGH treatment can improve the height of children with Crouzon syndrome and GHD without causing adverse reactions such as increased intracranial pressure.