Raine syndrome is a rare, often lethal autosomal recessive condition marked by congenital malformations that range in severity. Considering that several case reports of this syndrome describe cases of stillbirth or perinatal death, information about the clinical presentation and development of this condition in mild, non-lethal cases is lacking. With that in mind, in this case report, we describe the clinical, oro-dental, and skeletal findings of a 14-year-old Brazilian patient diagnosed with a mild form of non-lethal Raine syndrome. This patient has very mild facial dysmorphia, not displaying hypoplastic nose, micrognathia, low set ears or depressed nasal bridge, which is uncommon even in other mild, non-lethal cases of RS. Furthermore, this patient has bilateral brain calcifications and a series of oro-dental abnormalities, such as amelogenesis imperfecta and recurrent periodontal abcesses. Sanger sequencing of genomic DNA identified a homozygous missense variant c.1487C > T at exon 9 of FAM20C (NM_020223.4) in the patient. The patient’s mother carries the same variant but is heterozygous. This variant predicts a proline to leucine substitution in position 496 (p.P496L, NP_064608.2) previously reported, which allows for the phenotypic comparison between these cases. This way, this case report calls attention to how differently RS can appear, highlighting the importance of new non-lethal Raine syndrome case reports to help further determine the phenotypic spectrum of this condition.

Raine 综合征是一种罕见的、通常是致命的常染色体隐性遗传病，其特征是严重程度不一的先天畸形。考虑到该综合征的几例病例报告描述了死产或围产期死亡病例，因此缺乏有关该病在轻度、非致命病例中的临床表现和发展的信息。考虑到这一点，在本病例报告中，我们描述了一名被诊断为轻度非致命性雷恩综合征的 14 岁巴西患者的临床、口腔和骨骼发现。该患者有非常轻微的面部畸形，没有表现出鼻发育不良、小颌畸形、耳朵低位或鼻梁凹陷，即使在其他轻度、非致命性 RS 病例中也不常见。此外，该患者有双侧脑部钙化和一系列口腔牙齿异常，如牙釉质发育不全和复发性牙周脓肿。基因组 DNA 的 Sanger 测序鉴定了一个纯合错义变体 c.1487C > T 在外显子 9患者体内的FAM20C (NM_020223.4)。患者的母亲携带相同的变异，但为杂合子。该变体预测了先前报道的 496 位（p.P496L，NP_064608.2）中脯氨酸到亮氨酸的取代，这允许在这些病例之间进行表型比较。通过这种方式，本病例报告引起了人们对 RS 出现差异的关注，强调了新的非致命性雷恩综合征病例报告的重要性，以帮助进一步确定这种情况的表型谱。