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An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2020-05-19 , DOI: 10.1002/ajmg.a.61619
Jennifer L Stinson 1 , Jennifer A Brault 2 , Paula R Delk 1 , Brett H Graham 1 , Boaz Karmazyn 3 , Bryan Hall 4 , David D Weaver 1
Affiliation  

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。
更新日期:2020-06-22
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