Lacour Jennie C, McBride Lori, St Hilaire Hugo, Mundinger Gerhard S, Moses Michael, Koon Jessica, Torres Jairo I, Lacassie Yves
1 Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
2 Department of Neurosurgery, Children's Hospital, New Orleans, LA, USA.
Cleft Palate Craniofac J. 2019 May;56(5):674-678. doi: 10.1177/1055665618806379. Epub 2018 Oct 21.
We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene. Both cases were initially thought to have alternative disorders but were later correctly diagnosed through whole-exome sequencing. These cases expand upon our knowledge of the phenotypic spectrum in patients with MFDM, which will aid in defining the full phenotype of this disorder and increase awareness of this condition.
我们报告了2例伴有小头畸形的下颌面骨发育不全（MFDM）病例，其延伸因子Tu GTP结合结构域包含2基因存在不同的新发突变。这2例患者最初被认为患有其他疾病，但后来通过全外显子测序得以正确诊断。这些病例扩展了我们对MFDM患者表型谱的认识，这将有助于明确该疾病的完整表型，并提高对这种病症的认识。
