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

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

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

Afiliación

Atencia Goñi J; Department of Endocrinology and Nutrition, HGU Gregorio Marañón, Madrid, Spain. Electronic address: joseatenciagoni@hotmail.com.
Orera Clemente M; Department of Genetics, HGU Gregorio Marañón, Madrid, Spain.
Del Valle Diéguez MJ; Department of Radiology, HGU Gregorio Marañón, Madrid, Spain.
González Fernández L; Department of Endocrinology and Nutrition, HGU Gregorio Marañón, Madrid, Spain.
González Albarrán O; Department of Endocrinology and Nutrition, HGU Gregorio Marañón, Madrid, Spain.

Endocrinol Diabetes Nutr (Engl Ed) ; 71(3): 138-143, 2024 Mar.

Article en En | MEDLINE | ID: mdl-38555111

ABSTRACT

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.

Asunto(s)

Atresia de las Coanas; Microftalmía; Nariz/anomalías; Humanos; Proteínas Cromosómicas no Histona/genética; Proteínas Cromosómicas no Histona/metabolismo; Atresia de las Coanas/genética; Microftalmía/diagnóstico; Microftalmía/genética

Palabras clave

Disorders of sexual development; Genetic disorder; Growth disorders; Hipogonadismo; Hypogonadism; Trastorno genético; Trastornos del crecimiento; Trastornos del desarrollo sexual

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Microftalmía / Nariz / Atresia de las Coanas Límite: Humans Idioma: En Revista: Endocrinol Diabetes Nutr (Engl Ed) Año: 2024 Tipo del documento: Article Pais de publicación: España

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