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Abstract：
This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. This clinical triad was initially named after the first person to describe it in 1993. Here, we report a family with two siblings who presented with unusual intestinal atresia and ocular and CNS abnormalities. The first patient is a 6-year-old-boy with apple peel duodeno-jejunal atresia, unilateral microphthalmia and microcephaly. The second patient, a younger brother, presented with intestinal atresia, corneal opacity and alobar holoprosencephaly and passed away at the age of 3 months. Exome sequencing showed a novel homozygous variant in the CENPF gene, NM_016343.3: c.1195-2 A > G that was detected in both of the affected siblings. This is a report and literature review of CENPF-related ciliopathy, which may result in Stromme syndrome. As this is the fourth report linking the CENPF gene variant with Stromme syndrome and first reported case presented with holoprosencephaly, it will expand the current knowledge on the genotype and the phenotype of Stromme syndrome.
摘要：
这份报告描述了患有Stromme综合征的兄弟姐妹，一种罕见的遗传病，主要表现为肠闭锁三联症，颅骨和眼部畸形，可能涉及其他器官系统。这个临床三合会最初是以1993年第一个描述它的人的名字命名的。这里,我们报告了一个有两个兄弟姐妹的家庭，他们出现了异常的肠闭锁以及眼部和中枢神经系统异常。第一位患者是一个6岁的男孩，患有苹果皮十二指肠空肠闭锁，单侧小眼和小头畸形。第二个病人,一个弟弟,表现为肠闭锁，角膜混浊和全前脑畸形，在3个月大时去世。外显子组测序显示了CENPF基因中的一个新的纯合变体，NM_016343.3:c.1195-2A>G,其在两个受影响的兄弟姐妹中检测到。这是CENPF相关纤毛病的报告和文献综述，这可能会导致Stromme综合征.由于这是将CENPF基因变体与Stromme综合征联系起来的第四次报告，并且是首次报告的全前脑症病例，它将扩大目前对Stromme综合征基因型和表型的认识.
