ArticleCase reports in obstetrics and gynecology2026
Prenatal Detection of
Article in Case reports in obstetrics and gynecology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
Introduction: Case Presentation: A 21-year-old pregnant lady (G2P1) was referred to our center at 17-week gestation upon the detection of severe shortening of fetal limbs. Detailed ultrasound examination revealed small for gestational age, and specific craniofacial features such as severe micrognathia, short neck, microcephaly, prominent eyes, and occipital encephalocele. Other abnormalities were detected in extremities in the form of bowing of lower limbs, severe tetramicromelia, and upper limbs in a fixed flexion. Amniocentesis for whole exome sequencing was performed. It showed a homozygous pathogenic variant in the Discussion: Findings of this report support the growing evidence of the phenotypic spectrum and genetic underpinnings of the lethal disorder of
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