INTRODUCTION De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad. CASE PRESENTATION We report a case of a premature African newborn male baby born to nonconsanguineous parents who presented to our institution with agenesis of the septum pellucidum, unilateral optic nerve hypoplasia, and pituitary stalk hypoplasia. However, he had intact central endocrine function. He also presented with limb defects due to constricting amniotic band syndrome. Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. Over time, he had an adequate weight gain and was managed by a multidisciplinary team. CONCLUSION De Morsier syndrome still represents a diagnostic challenge, despite advances in neuroimaging and genetic studies, due to the heterogeneous nature of the disorder. This case adds to existing knowledge on the vascular pathogenesis of septo-optic dysplasia.

中文翻译：

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羊膜带综合征序列的视神经发育不良：一例报告。

引言De Morsier综合征或视光发育不良是一种罕见的，异质性的，复杂的疾病，具有高度可变的表型。它的特征是视神经发育不全，垂体腺发育不全和中线脑部异常，包括不存在中隔透明质膜和体发育不全。临床上通过存在来自临床三联征的任何两个或更多个特征来进行诊断。病例介绍我们报告了一例由非血缘父母出生的非洲早产男婴，他们向我们机构介绍了中隔透明性发育不全，单侧视神经发育不全和垂体茎发育不全。但是，他具有完整的中央内分泌功能。他还因收缩羊膜带综合征而出现肢体缺损。其他畸形特征包括低位耳朵，小头畸形，和双侧唇ipe等新星。否则他的神经系统检查结果正常。随着时间的流逝，他的体重得到了适当的增加，并由一个多学科团队进行管理。结论尽管神经影像学和遗传学研究取得了进展，但由于疾病的异质性，De Morsier综合征仍然代表着诊断上的挑战。该病例增加了关于视光发育不良的血管发病机理的现有知识。