The aim is to explore the prenatal diagnosis of geleophysic dysplasia type 1 in a family with a history of increased nuchal translucency and hydrocephalus.
Assessment of prenatal ultrasound findings
Genetic testing for diagnoses
Analysis of family history related to the condition
Increased nuchal translucency and hydrocephalus were observed in ultrasound screenings.
Genetic testing confirmed the presence of geleophysic dysplasia type 1.
Findings suggest a hereditary pattern of the condition.
Abstract
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