Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder which represents a phenotype mainly involving craniofacial and neurodevelopmental manifestations due to UBE3B gene mutations. The vast majority of the affected individuals exhibit microcephaly, eye abnormalities, and typical facial gestalt including blepharophimosis, ptosis, telecanthus, upslanting palpebral fissures, dysplastic ears, and micrognathia. We encountered 2 siblings in whom severe psychomotor delay, distinctive facial features, hearing loss, and respiratory distress were observed. Some clinical manifestations of the patients, including epibulbar dermoid, microtia, and multiple preauricular tags, were reminiscent of the oculoauriculovertebral spectrum. However, 2 affected siblings exhibited a similar clinical picture consisting of microcephaly, severe developmental and cognitive disabilities, failure to thrive, and dysmorphic features, which were not fully consistent with oculoauriculovertebral spectrum. Also, hypoplastic nails, considered as a core manifestation of Coffin-Siris syndrome, were present in our patients. Therefore, whole-exome sequencing was carried out in order to identify the underlying genetic alterations, contributing to the complex phenotype shared by the 2 siblings. A homozygous pathogenic mutation was found in both affected siblings in the UBE3B gene which caused Kaufman oculocerebrofacial syndrome. Kaufman oculocerebrofacial syndrome should be considered among the autosomal recessive causes of blepharophimosis-mental retardation syndromes, particularly in populations with a high rate of consanguineous marriages, even if there are dysmorphic facial features that are not typically associated with the phenotype.
Mol Syndromol

中文翻译：

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患有类似眼耳脊椎谱的考夫曼眼脑面部综合征的两个兄弟姐妹

考夫曼眼脑面部综合征是一种罕见的常染色体隐性遗传病，其表型主要涉及UBE3B引起的颅面和神经发育表现基因突变。绝大多数受影响的个体表现出小头畸形、眼睛异常和典型的面部完形，包括眼睑下垂、上睑下垂、长绦虫、上斜睑裂、发育不良的耳朵和小颌畸形。我们遇到了 2 名兄弟姐妹，他们观察到严重的精神运动迟缓、独特的面部特征、听力损失和呼吸窘迫。患者的一些临床表现，包括球外皮样、小耳畸形和多个耳前标记，让人联想到眼耳脊椎谱。然而，2 名受影响的兄弟姐妹表现出类似的临床表现，包括小头畸形、严重的发育和认知障碍、发育不良和畸形特征，这些特征与眼耳脊椎谱并不完全一致。此外，发育不良的指甲，被认为是 Coffin-Siris 综合征的核心表现，出现在我们的患者中。因此，进行了全外显子组测序以识别潜在的遗传改变，这有助于 2 兄弟姐妹共享的复杂表型。在两个受影响的兄弟姐妹中都发现了纯合的致病突变引起考夫曼眼脑面部综合征的UBE3B基因。Kaufman 眼脑面部综合征应被视为眼睑内翻 - 智力迟钝综合征的常染色体隐性原因，特别是在近亲结婚率高的人群中，即使存在通常与表型无关的畸形面部特征。
摩尔综合征