de Oliveira-Sobrinho Ruy Pires, Vieira Társis Paiva, Steiner Carlos Eduardo
Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Mol Syndromol. 2024 Dec;15(6):523-530. doi: 10.1159/000538012. Epub 2024 Mar 27.
MOMO syndrome is a rare disorder with variable presentation and unknown etiology belonging to the overgrowth syndromes group.
The authors describe a patient presenting with severe developmental delay, absent speech, autism spectrum disorder, central nervous system malformations, bilateral optic atrophy, and postnatal overgrowth, besides a dysmorphic and progressive coarse face. A clinical diagnosis of MOMO syndrome was proposed, but he developed megaesophagus, megacolon, paraparesis, and severe acne during the clinical follow-up, which are not described in this condition. Whole-genome sequencing detected a deletion of 11.9 Mb at 3q13.2q21.2 comprising 80 genes, including the gene associated with Primrose syndrome.
Despite the atypical manifestations in this patient, the overlapping features between MOMO syndrome, Primrose syndrome, and 3q13.31 deletion led the authors to propose that MOMO syndrome could be part of the Primrose/3q13.31 microdeletion syndrome spectrum.
MOMO综合征是一种罕见疾病，表现多样，病因不明，属于过度生长综合征组。
作者描述了一名患者，除面部畸形且逐渐变粗糙外，还存在严重发育迟缓、无言语能力、自闭症谱系障碍、中枢神经系统畸形、双侧视神经萎缩和出生后过度生长。提出了MOMO综合征的临床诊断，但在临床随访期间他出现了巨食管、巨结肠、双下肢轻瘫和重度痤疮，而这种疾病中并未描述这些症状。全基因组测序检测到3q13.2q21.2处有11.9 Mb的缺失，包含80个基因，包括与报春花综合征相关的基因。
尽管该患者有非典型表现，但MOMO综合征、报春花综合征和3q13.31缺失之间的重叠特征使作者提出MOMO综合征可能是报春花/3q13.31微缺失综合征谱系的一部分。
