گزارش موردی: یافته‌های غیرطبیعی در سونوگرافی سه ماهه دوم بارداری (آنومالی اسکن)

  • ۱۰ مهر ۱۳۹۹
  • A 21-year-old woman, G1P0, was referred to our center for abnormal findings (echogenic kidney and encephalocele)in her fetus. NT was 4.4mm so CVS was done and it shows normal karyotype.
  • Parents are consanguineous.
  • Our US examination at the 18th week revealed the following findings:

Vermian agenesis

Vermian agenesis

What is your diagnosis?

  • Joubert Syndrome
  • Meckel gruber syndrome
  • Roberts syndrome

We look forward to hearing your comments.

Many thanks in advance.

Hope Generation Foundation

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