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RESEARCH: “Variable phenotypic expression of Apert syndrome in monozygotic twins”

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RESEARCH: “Variable phenotypic expression of Apert syndrome in monozygotic twins”

We report a second case of Apert syndrome in monozygotic twins affected by the same mutation but with different clinical characteristics. The typical malformations were identified for both fetuses. In addition, fetus A presented a congenital left diaphragmatic hernia and a cleft palate.

Apert syndrome is an acrocephalosyndactyly characterized by craniosynostosis, midface hypoplasia, and extremities anomalies and caused by heterozygous mutation in the Fibroblast Growth Factor 2 (FGFR2) gene. The estimated incidence of Apert syndrome is reported to be 1/100 000 to 1/160 000.1 We report a case of a prenatal diagnostic of Apert syndrome in monozygotic twins affected by the same mutation but with different clinical characteristics.

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