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.

该报告描述了具有斯特罗姆综合症的兄弟姐妹，这是一种罕见的遗传病，主要表现为肠闭锁，颅和眼畸形三联征，并且可能涉及其他器官系统。该临床三合会最初是在1993年以第一个描述它的人的名字命名的。在这里，我们报道一个有两个兄弟姐妹的家庭，这些兄弟姐妹表现出异常的肠道闭锁，眼部和中枢神经系统异常。第一例患者是一个6岁男孩，苹果皮十二指肠空肠闭锁，单侧小眼症和小头畸形。第二例患者是一个弟弟，患有肠道闭锁，角膜混浊和allobar全前脑畸形，并在3个月大时死亡。外显子测序中显示一种新颖的变体的纯合CENPF基因，NM_016343.3：c.1195-2 A> G，在两个受影响的兄弟姐妹中均检测到。这是与CENPF相关的纤毛病的报告和文献综述，可能会导致Stromme综合征。由于这是将CENPF基因变异与Stromme综合征联系起来的第四份报告，并且是第一例报道的全脑性先发性病例，因此它将扩展对Stromme综合征的基因型和表型的现有知识。