BACKGROUND Cleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance that is characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature, among other features. The responsible gene for CCD is RUNX2 located on the short arm of chromosome 6p21. In general, there are intrafamilial variations in height among CCD patients. Few studies have reported data on recombinant human growth hormone (rhGH) treatment for patients with CCD; thus, it remains to be elucidated whether rhGH treatment can improve short stature. Here, we report a case of a 6-year-old girl with CCD who has growth hormone deficiency (GHD) and a novel mutation of RUNX2. CASE PRESENTATION At 5 years of age, this patient was diagnosed with GHD and rhGH treatment was initiated. Thereafter, she was diagnosed with CCD due to the presence of hypoplastic clavicles and an open fontanelle, which was also observed in her mother and brother. She responded well to rhGH treatment; her height improved from - 3.2 SD to - 2.4 SD after 13 months. CONCLUSION A detailed patient history and physical examination are necessary for the early diagnosis of CCD. Similarly, to ascertain the effect of rhGH treatment, careful evaluation of the patient's final height post-therapy is needed.

中文翻译：

---

伴有生长激素缺乏的锁骨发育不良：病例报告。

背景技术锁骨发育不良 (CCD) 是一种罕见的具有常染色体显性遗传的骨骼疾病，其特征是锁骨发育不全、颅缝闭合延迟、牙齿异常和身材矮小等特征。CCD的负责基因是位于染色体6p21短臂上的RUNX2。一般来说，CCD 患者的身高存在家族内部差异。很少有研究报道重组人生长激素 (rhGH) 治疗 CCD 患者的数据；因此，rhGH 治疗是否可以改善身材矮小仍有待阐明。在这里，我们报告了一例患有 CCD 的 6 岁女孩，她患有生长激素缺乏症 (GHD) 和 RUNX2 的新突变。病例介绍 在 5 岁时，该患者被诊断出患有 GHD，并开始了 rhGH 治疗。此后，由于存在发育不全的锁骨和开放的囟门，她被诊断出患有 CCD，在她的母亲和兄弟身上也观察到了这种情况。她对 rhGH 治疗反应良好；13 个月后，她的身高从 - 3.2 SD 提高到 - 2.4 SD。结论详细的病史和体格检查对于早期诊断CCD是必要的。同样，为了确定 rhGH 治疗的效果，需要仔细评估患者治疗后的最终身高。