Nicolaides-Baraitser syndrome (NCBRS) (OMIM 601358) is an uncommon but well-recognized autosomal dominant entity that is characterized by sparse scalp hair, characteristic coarse facies, microcephaly, seizures, developmental delay, intellectual disability (ID) and prominence of the interphalangeal joints and distal phalanges. Seizures are also common finding besides developmental delay and ID, which is severe approximately in half, moderate in one third and mild in the remainder. Here, we report two Turkish patients with NCBRS. One has a novel variant [NM_003070.5:c.3389G>T p.(Gly1130Val)] and a mild-moderate phenotype, and the other has a known variant [NM_003070.5:c.2554G>A p.(Glu852Lys)] correlated with severe phenotype.

中文翻译：

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Nicolaides-Baraitser综合征2例，其中1例患有新型SMARCA2变异。

Nicolaides-Baraitser综合征（NCBRS）（OMIM 601358）是一种罕见但公认的常染色体显性实体，其特征是稀疏的头皮毛发，特征性的粗糙相，小头畸形，癫痫发作，发育迟缓，智力障碍（ID）和指间突出关节和远端指骨。除发育迟缓和ID外，癫痫发作也是常见的发现，其严重程度约为一半，中度为三分之一，其余为轻度。在这里，我们报告了两名土耳其NCBRS患者。一个具有新颖的变体[NM_003070.5：c.3389G> T p。（Gly1130Val）]和一个中度表型，另一个具有已知的变体[NM_003070.5：c.2554G> A p。（Glu852Lys）与严重的表型相关。