Craniofrontonasal syndrome (CFNS) is a rare X-linked genetic disorder which is characterized by coronal synostosis, widely spaced eyes, a central nasal groove, and various skeletal anomalies. Mutations in the EFNB1 gene in Xq13.1 are responsible for familial and sporadic cases. In the present study, we aimed to evaluate the clinical characteristics and molecular results of 4 patients with CFNS. Genomic DNA was extracted from the peripheral blood lymphocytes of all patients and their parents, and Sanger sequencing of the EFNB1 gene was performed. A novel EFNB1 gene mutation (c.65delG; p.Cys22SerfsTer24) was detected in a newborn who had only dysmorphic facial features and bicornuate uterus. The other 3 patients (2 familial cases and 1 sporadic case) shared the same mutation (c.196C#x3e;T; p.R66X). However, the clinical features of these patients were highly variable. Additionally, central (meso-axial) polydactyly and deep palmar creases were detected, which have not been previously reported. CFNS has a wide clinical spectrum, but there is no clear genotype-phenotype correlation. However, central (meso-axial) polydactyly and deep palmar creases may be part of the clinical spectrum seen in CFNS. In addition, our findings expand the mutational spectrum in patients with CFNS.
Mol Syndromol

中文翻译：

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颅额鼻综合征散发性和家族性病例的评估：广泛的临床谱和新型 EFNB1 基因突变的鉴定

颅额鼻综合征 (CFNS) 是一种罕见的 X 连锁遗传疾病，其特征是冠状骨融合、眼睛间距宽、中央鼻沟和各种骨骼异常。Xq13.1 中EFNB1基因的突变是导致家族性和散发性病例的原因。在本研究中，我们旨在评估 4 例 CFNS 患者的临床特征和分子结果。从所有患者及其父母的外周血淋巴细胞中提取基因组DNA，并对EFNB1基因进行Sanger测序。一种新颖的EFNB1在仅具有畸形面部特征和双角子宫的新生儿中检测到基因突变（c.65delG；p.Cys22SerfsTer24）。其他 3 名患者（2 名家族病例和 1 名散发病例）共享相同的突变（c.196C#x3e；T；p.R66X）。然而，这些患者的临床特征差异很大。此外，还检测到中央（中轴）多指和深掌折痕，这在以前没有报道过。CFNS具有广泛的临床谱，但没有明确的基因型-表型相关性。然而，中央（中轴）多指和深掌折痕可能是 CFNS 临床表现的一部分。此外，我们的研究结果扩大了 CFNS 患者的突变谱。
摩尔综合症