Case report describes fetal diaphragmatic herniation due to rib hypoplasia, suggesting prenatal diagnosis feasibility.
Poland syndrome (PS) is a rare, non-hereditary congenital malformation characterized primarily by hypoplasia or absence of the pectoralis major muscle on one side. Key clinical manifestations include hypoplasia of the breast and nipple on the same side, which may be accompanied by hand deformities on the same side. In extremely rare cases, the syndrome affects the ribs, leading to rib hypoplasia and resulting in ipsilateral diaphragmatic displacement. The pathogenesis is likely related to disruption of the subclavian artery blood supply during embryonic development. Prenatal diagnosis of this syndrome is extremely difficult, and there are very few reports in the literature. This article presents a case report of fetal diaphragmatic herniation caused by rib hypoplasia, with the aim of exploring the feasibility of prenatal diagnosis for this rare syndrome.
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Feng et al. (2026) studied this question.
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