Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.

José Atencia Goñi, Laura González Fernández, Olga González Albarrán, María Orera Clemente, Mariano José Del Valle Diéguez

Journal: Endocrinologia, diabetes y nutricion 2024;71(3):138-143

PMID: 38555111

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Abstract

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.

Address: Department of Endocrinology and Nutrition, HGU Gregorio Marañón, Madrid, Spain. Electronic address: [email protected].; Department of Genetics, HGU Gregorio Marañón, Madrid, Spain.; Department of Radiology, HGU Gregorio Marañón, Madrid, Spain.; Department of Endocrinology and Nutrition, HGU Gregorio Marañón, Madrid, Spain.

DOI: 10.1016/j.endien.2024.03.011

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MeSH Terms: Humans, Chromosomal Proteins, Non-Histone, Choanal Atresia, Nose, Microphthalmos