Abstract

SARMIENTO PINA, Maira  and  REYNA-VILLASMIL, Eduardo. Prenatal diagnosis of Walker-Warburg syndrome. Rev Obstet Ginecol Venez [online]. 2025, vol.85, n.3, pp.466-471.  Epub Oct 23, 2025. ISSN 0048-7732.  https://doi.org/10.51288/00850316.

Walker-Warburg syndrome is a rare severe form of congenital muscular dystrophy that is inherited in an autosomal recessive manner and presents with brain and ocular abnormalities. Incidence is approximately 1.2 cases per 100,000 neonates. Clinical manifestations include ventriculomegaly, hydrocephalus, and lissencephaly, and the prognosis is generally poor, with a high mortality rate in the early years of life. Prenatal diagnosis is crucial for clinical management, though it presents challenges due to genetic variability. Prenatal ultrasound and magnetic resonance imaging are key tools for identifying structural anomalies, while genetic testing can confirm the diagnosis and assess the risk of recurrence in future pregnancies. Currently, there is no curative treatment, and the focus is on managing symptoms and complications. A case of prenatal diagnosis of Walker-Warburg syndrome is presented.

Keywords : Walker-Warburg syndrome; Prenatal diagnosis; Lissencephaly; Muscular dystrophy.

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