Hydranencephaly and Bilateral Cleft Lip/Palate: Fowler Spectrum Expansion
DOI:
https://doi.org/10.70577/asce.v5i2.867Palabras clave:
Hydranencephaly; Fowler syndrome; cleft lip; cleft palate; congenital vasculopathy; neonatal neurologyResumen
To describe an unusual clinical case of hydranencephaly associated with complete bilateral cleft lip and palate, and to explore its possible relationship with Fowler syndrome, hypothesizing an expanded phenotypic expression of FLVCR2-related vasculopathy.
We report the case of a term male neonate with prenatal and postnatal diagnosis of hydranencephaly confirmed by computed tomography. A comprehensive clinical evaluation was performed, including conventional cytogenetic analysis and TORCH screening to exclude chromosomal and infectious etiologies.
The neonate presented with severe hydranencephaly and complete bilateral cleft lip and palate, without other evident systemic anomalies. Cytogenetic studies revealed a normal karyotype, and TORCH screening was negative. No relevant family history was identified. To our knowledge, this association has not been previously reported in the medical literature.
The coexistence of hydranencephaly and craniofacial malformations may represent an expanded phenotypic spectrum of Fowler syndrome or, alternatively, a distinct developmental vascular disorder affecting both cerebral and craniofacial arterial territories. This case highlights the importance of early vascular mechanisms in embryogenesis and supports further clinical characterization of rare congenital vasculopathies.
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Derechos de autor 2026 Ramón Miguel Vargas Vera , Lito Danny Campos Carbo , Wilson Ramón Solórzano Loor , Alaide Andrea Romero Solórzano , Adriana Elizabeth Delgado Cruz , Martha Veronica Placencia Ibadango
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