Elmakhzen Badreddine, Bouguenouch Laila, Oussama Kettani, Ali El Asri Yasser, Askander Omar
Service de génétique et oncogénétique, CHU HASSAN 2, Fès, Maroc.
Faculty of Medical Sciences, Mohamed VI Polytechnic University, Benguerir, Morocco.
Mol Biol Rep. 2024 Dec 2;52(1):32. doi: 10.1007/s11033-024-10129-z.
Dyggve-Melchior-Clausen (DMC) disease is a rare autosomal recessive disorder primarily characterized by spondylo-epimetaphyseal dysplasia, intellectual disability, and distinctive facial features. Patients typically present with severe developmental delays and cognitive impairments, defining features of the syndrome.
This case report examines a 13-year-old Moroccan child diagnosed with DMC disease, presenting classical skeletal abnormalities, including spondylo-epimetaphyseal dysplasia, as confirmed through exome sequencing. Notably, the child exhibited a mutation recurrently identified in the Moroccan population. However, the patient showed no signs of developmental delay or intellectual disability, a marked deviation from the traditionally described phenotype. This finding suggests a broader clinical variability associated with DMC disease, emphasizing the importance of individualized assessments.
This atypical presentation expands the phenotypic spectrum of DMC disease, challenging its conventional diagnostic criteria. Further research is required to elucidate the factors influencing phenotypic variability in DMC and to explore potential genotype-phenotype correlations. Early identification and documentation of such atypical cases are critical for refining diagnostic and management strategies for rare disorders.
迪格维-梅尔基奥尔-克劳森（DMC）病是一种罕见的常染色体隐性疾病，主要特征为脊椎骨骺发育异常、智力残疾和独特的面部特征。患者通常表现出严重的发育迟缓及认知障碍，这些是该综合征的典型特征。
本病例报告研究了一名13岁被诊断为DMC病的摩洛哥儿童，其表现出典型的骨骼异常，包括脊椎骨骺发育异常，经外显子组测序得以证实。值得注意的是，该儿童存在一个在摩洛哥人群中反复发现的突变。然而，该患者未表现出发育迟缓或智力残疾的迹象，这与传统描述的表型有显著差异。这一发现表明DMC病存在更广泛的临床变异性，强调了个体化评估的重要性。
这种非典型表现扩展了DMC病的表型谱，对其传统诊断标准提出了挑战。需要进一步研究以阐明影响DMC表型变异性的因素，并探索潜在的基因型-表型相关性。早期识别和记录此类非典型病例对于完善罕见病的诊断和管理策略至关重要。
