The presence of a dilated SPR prenatally in the presence of even mild ventriculomegaly should prompt evaluation and follow-up for the presence of obstructive ventriculomegaly with obstruction located downstream of the third ventricle.
What is already known about this topic?
Osteopathia striata with cranial sclerosis is a rare bone dysplasia, characterized by longitudinal striations of long bones and cranial sclerosis. Age at diagnosis and clinical presentation are variable, ranging from asymptomatic to neonatal lethal cases.
What does this topic add?
Prenatal diagnosis is challenging because fetal presentation is variable and mothers with OS‐CS can be misdiagnosed. We report the first prenatal case of OS‐CS with sonographic and autopsy findings and discuss the possibility of a prenatal diagnosis when the Wilms tumor on the X chromosome mutation is identified in the mother.
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