A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation

Asphyxiating thoracic dystrophy type Jeune is a rare, potentially fatal, autosomal recessive skeletal dysplasia characterized by a small and narrow thorax, lung hypoplasia, limb shortness, and facultative congenital abnormalities (e. g. polydactyly and ocular, hepatic, or renal complications) (de Vries et al., Eur J Pediatr 2010; 169: 77–88). Despite the identification of at least 17 associated genes since its first description (Jeune et al., Arch Fr Pediatr 1955; 12: 886–891), prenatal diagnosis and prognostic counseling remain challenging due to substantial clinical heterogeneity and limited genotype-phenotype correlations (Stembalska et al., Genes 2022; 13). We present a newborn with antenatally confirmed and postnatally relatively mild Jeune syndrome.