Department of Paediatrics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
University of Exeter, Exeter, UK.
Am J Med Genet A. 2020 Aug;182(8):1939-1943. doi: 10.1002/ajmg.a.61628. Epub 2020 May 31.
We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly-ectodermal dysplasia-clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.
我们报告了一例男性病例，他在出生后不久因双侧后鼻孔闭锁导致急性呼吸窘迫，随后发现他患有直肠狭窄。CHARGE 综合征的基因检测结果为阴性，但全基因组测序发现 TP63 存在杂合致病性错义变异(c.727C>T, p.(Arg243Trp))。他还存在右手第三和第四指部分皮肤并指，以及双侧泪道狭窄/发育不全。后来的颌面复查发现可触及黏膜下裂，他的头皮毛发呈金黄色且略显稀疏。后鼻孔闭锁和直肠狭窄是外胚层发育不良-并指-裂隙综合征的特征性表现，但我们认为这是首例无主要特征而表现出这些特征的病例报告。
