A case report of a 14-year-old girl with Urban-Rifkin-Davis Syndrome (URDS; autosomal recessive cutis laxa type 1C) carrying a novel LTBP4 frameshift variant (c.3512dup, p.Arg1172ProfsTer60), presenting with left upper lobar overinflation, diaphragmatic hernia, ASD with Eisenmenger physiology, and severe pulmonary hypertension.
Left upper lobectomy improved oxygen saturation from 75% to 85%; whole exome sequencing identified a novel likely pathogenic LTBP4 variant not previously reported, in a patient who survived into adolescence despite a reported mean URDS survival of ~4 years.
Single case report limits generalizability; no long-term follow-up data reported post-discharge; causality between the novel variant and specific phenotypic features cannot be fully established without functional studies.
In a child with lobar overinflation, loose/sagging skin, facial dysmorphism, and multi-system anomalies, consider URDS and pursue whole exome sequencing early. Comprehensive workup should include echocardiography, GI evaluation, and diaphragmatic imaging, as respiratory and cardiac complications can be severe and partially reversible with surgical intervention.
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