Abstract
Schaaf–Yang syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. It is characterized by distal joint contractures, muscular hypotonia, swallowing and respiratory difficulties, and developmental delay. Prenatally, the disease manifests as abnormalities of the feet and hands, fetal hypokinesia, and polyhydramnios due to fetal swallowing difficulties. Diagnosis of Schaaf–Yang syndrome is usually made in the postnatal period. There are few publications on prenatal diagnosis of this syndrome since its ultrasonographic features are non-specific and common to many other pathological conditions. This article presents a clinical case of prenatal diagnosis and ultrasound monitoring of the fetus with feet and hand abnormalities and hypokinesia in pregnancy with severe polyhydramnios. Schaaf–Young syndrome was diagnosed postnatally by whole genome sequencing. Key words: camptodactyly, sandal gap deformity, Schaaf-Young syndrome, screening test, ultrasound diagnosis
Published Version
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