Gaceta medica de Mexico · 2025
Thanatophoric dysplasia: prevalence, clinical characteristics, and molecular findings in a public hospital from Western Mexico.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Cruz-Cruz Jessica P, Robles-Espinoza Kiabeth, Magaña-Torres María T, Peña-Padilla Christian, Bustos-Rodríguez Felipe J, Barrios-Prieto Ernesto, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Corona-Rivera Jorge R
Аннотация
BACKGROUND: Thanatophoric dysplasia (TD) is a lethal FGFR3 chondrodysplasia characterized by micromelia and bowed femurs (TD1), or straight femurs and cloverleaf skull (TD2).
OBJECTIVE: To determine the prevalence and clinical and molecular characteristics of patients with TD in a public hospital in Western Mexico.
MATERIALS AND METHODS: Observational, retrospective and descriptive study. Ten live births with TD were included from a total of 118,154 births between 2009 and 2024 at the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Mexico). The FGFR3 gene was analyzed by PCR, followed by direct sequencing of exons 4-6 and 8.
RESULTS: The prevalence of TD was 0.85 per 10,000 births (95% CI: 0.32-1.37). All presented TD1 (4 men and 6 women), sporadic occurrence and 4/10 advanced paternal age. Phenotype: short stature, macrocephaly, hypotonia, distinctive facial features, narrow thorax, prominent abdomen, micromelia, redundant skinfolds, trident hand, short ribs, rhizomelic shortening, irregular metaphyses, platyspondyly and bowed femurs. In seven, pathogenic variants in FGFR3 were identified: p.Arg248Cys (n = 3), p.Ser371Cys (n = 2), p.Gly370Cys (n = 1) and p.Try373Cys (n = 1).
CONCLUSIONS: One in 11,815 infants was born with T1D. Molecular analysis allows to distinguish it from other lethal chondrodysplasias and to provide appropriate genetic counseling.
OBJECTIVE: To determine the prevalence and clinical and molecular characteristics of patients with TD in a public hospital in Western Mexico.
MATERIALS AND METHODS: Observational, retrospective and descriptive study. Ten live births with TD were included from a total of 118,154 births between 2009 and 2024 at the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Mexico). The FGFR3 gene was analyzed by PCR, followed by direct sequencing of exons 4-6 and 8.
RESULTS: The prevalence of TD was 0.85 per 10,000 births (95% CI: 0.32-1.37). All presented TD1 (4 men and 6 women), sporadic occurrence and 4/10 advanced paternal age. Phenotype: short stature, macrocephaly, hypotonia, distinctive facial features, narrow thorax, prominent abdomen, micromelia, redundant skinfolds, trident hand, short ribs, rhizomelic shortening, irregular metaphyses, platyspondyly and bowed femurs. In seven, pathogenic variants in FGFR3 were identified: p.Arg248Cys (n = 3), p.Ser371Cys (n = 2), p.Gly370Cys (n = 1) and p.Try373Cys (n = 1).
CONCLUSIONS: One in 11,815 infants was born with T1D. Molecular analysis allows to distinguish it from other lethal chondrodysplasias and to provide appropriate genetic counseling.