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A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report

Year: 2024

Type: article

Abstract: Dyggve-Melchior-Clausen (DMC) disease, also known as DMC syndrome, is a rare, progressive genetic disorder that is characterized by skeletal and intellectual abnormalities. The case report involves a four-year-old male child presenting with marked short stature, intellectual disability, coarse facies, and microcephaly. Initial investigations, including blood tests and radiological evaluations, prompted further genetic testing via whole-exome sequencing. This identified a homozygous mutation in the Dymeclin (DYM) gene, implicating DMC disease. The condition usually poses diagnostic challenges due to overlapping clinical features with Morquio syndrome. This case highlights the importance of a comprehensive diagnostic approach and genetic testing in elucidating the underlying genetic etiology of complex presentations in pediatric patients.

Source: Cureus

DOI: 10.7759/cureus.69495

Authors: Sanjay Chavan, Shiji Chalipat, Sarnya Verma, Gaurav Kumar, Shailaja Mane

Institutions: Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth, Pune

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4402807931