Baraitser–Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family.

中文翻译：

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Baraitser-Winter脑前额面综合征：两个成年兄弟姐妹的报告。

Baraitser-Winter脑前额叶综合症（BWCS）是一种罕见的常染色体显性遗传病，其特征在于智力残疾，独特的颅面特征，结构性脑异常，癫痫发作，小头畸形，听力下降和眼球疣。前三例由Baraitser和Winter于1988年描述，包括两名兄弟姐妹和一名无关的第三名患者。随后，在ACTB和ACTG1中产生了致使性错义变体鉴定出该基因，并在该患者中从头发生。在这里，我们描述了两个成年兄弟姐妹，他们是由未受影响的父母所生，并在因智力残疾而进行的外显子组测序后，在其生命的第四和第六个十年被诊断出患有BWCS。我们回顾了成年BWCS患者的文献报道，以记录可能在以后发生的临床特征和表型变异。这是BWCS中第一个通过分子确认的种系镶嵌的报告，并且是描述少数两个属于同一家族的BWCS患者的少数报告之一。