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A 32-year-old white, gravida 1, underwent fetal karyotyping for high risk of common trisomies due to nuchal translucency (NT) > 99th centile. CVS (chorionic villus sampling) resulted in 46,XY. Level II ultrasound examination with fetal echocardiography was planned at 19w5d. Ultrasound evaluation was conducted using Voluson 8 apparatus (GE, Milwaukee, WI) equipped with 2DUS and 3D/4DUS probes. 3DUS was carried out using surface-rendering and skeleton mode. Ultrasound examination showed an increased nuchal fold (7 mm), prenasal edema, and a lateral cleft extending from the left commissure of the mouth to the chin, with sunken appearance of the cheek. Multiple sonographic markers of skeletal dysplasia were characterized by bilateral femoral hypoplasia (FL < 3rd centile for expected gestational age), curved tibia, and absent fibula. In addition, oligodactyly of the hands and feet was seen; syndactyly of the right hand was an associated feature.

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Prenatal Diagnosis of Tessier 7 Cleft in a Case of Femoral Hypoplasia-Unusual Facies Syndrome with Associated Absent Fibula and Digit Abnormalities

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  • 发表日期：

    2025年

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  • Gianpaolo Grisolia,
  • Gabriele Tonni

摘要

A 32-year-old white, gravida 1, underwent fetal karyotyping for high risk of common trisomies due to nuchal translucency (NT) > 99th centile. CVS (chorionic villus sampling) resulted in 46,XY. Level II ultrasound examination with fetal echocardiography was planned at 19w5d. Ultrasound evaluation was conducted using Voluson 8 apparatus (GE, Milwaukee, WI) equipped with 2DUS and 3D/4DUS probes. 3DUS was carried out using surface-rendering and skeleton mode. Ultrasound examination showed an increased nuchal fold (7 mm), prenasal edema, and a lateral cleft extending from the left commissure of the mouth to the chin, with sunken appearance of the cheek. Multiple sonographic markers of skeletal dysplasia were characterized by bilateral femoral hypoplasia (FL < 3rd centile for expected gestational age), curved tibia, and absent fibula. In addition, oligodactyly of the hands and feet was seen; syndactyly of the right hand was an associated feature.