Article
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.
Prenatal diagnosis - 1 Dec 2020
El-Dessouky Sara H, Abdel-Hamid Mohamed S, Abdel-Ghafar Sherif F, Aboulghar Mona M, Gaafar Hassan M, Fouad Mona, Ahmed Adel H, Abdel-Salam Ghada M H
Abstract excerpt
OBJECTIVE: The purpose of this study was to elucidate the facial morphology and the pattern of internal malformations in three fetuses with RS born to first cousins of Egyptian decent. METHODS: The fetal ultrasonography findings were highly suggestive of RS leading to targeted Sanger sequencing of FAM20C and postnatal assessment. RESULTS: The prenatal ultrasound findings of osteosclerotic skull, exorbitism,...
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