We report on a 26‐year‐old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating. He likely had a previously undescribed syndrome of unknown etiology.

中文翻译：

---

一种明显的新综合症，包括身材矮小，小头畸形，面部畸形，智力残疾和病因不明的骨发育不良。

我们报告了一名26岁的男性，该男性身材矮小，小头畸形，大舌症，其他畸形特征，严重的智力障碍和骨发育不良。该患者进行了广泛的遗传和生化评估，结果均为正常或无资料。最近，先证者在一段时间没有进食后死亡。他可能患有先前未描述的病因未知综合症。