Year: 2024
Type: article
Study design: Case Report
Abstract: Gruber syndrome is a rare Meckel polymalformative syndrome, autosomal recessive, defined by occipital encephalocele, polydactyly, and renal cystic dysplasia. Ultrasound is currently the best means of antenatal screening for this lethal polymalformation, and confirmation is by karyotype study. We report the case of a second 31-year-old woman with a scarred uterus and no history of consanguinity, who had a full-term pregnancy in which the diagnosis of Meckel-Gruber syndrome was made at 19 weeks' gestation and confirmed at birth. Keywords: Meckel syndrome, renal dysplasia, prenatal diagnosis.
Author: Nassima Ouguerzi
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4403169899