File:1-s2.0-S2214426923000058-gr1.jpg
Jump to navigation
Jump to search
1-s2.0-S2214426923000058-gr1.jpg (800 × 582 pixels, file size: 118 KB, MIME type: image/jpeg)
Summary
Description |
English: Fig. 1. A. Placental examination showing moderate villous hydrops associated with large chorioangioma (left picture) and prenatal ultrasound showing polyhydramnios at 26 weeks of gestation (right picture). B. Brain MRI showing Dandy-Walker malformation with cerebellar hypoplasia (red asterisk). C. Front and lateral views of the patient showing facial dysmorphism including elongated face with high forehead, high arched eyebrows, ptosis and strabismus, low-set ears, long philtrum, thin upper lip, upturned corner of the mouth, and bilateral camptodactyly. D. Sanger sequencing identified a homozygous novel GLDC variant c.707G > A p.(Arg236Gln) in the propositus. The parents were heterozygous. |
Date | |
Source | https://www.sciencedirect.com/science/article/pii/S2214426923000058 |
Author | Minh-Tuan Huynh , Emilie Landais , Jean-Madeleine De Sainte Agathe , Anne Panchout , De Vanssay De Blavous-Legendre Caroline , Henri Bruel |
Licensing
English: This file is licensed CC BY-NC-ND 4.0
This file was uploaded with UploadWizard.
File history
Click on a date/time to view the file as it appeared at that time.
Date/Time | Thumbnail | Dimensions | User | Comment | |
---|---|---|---|---|---|
current | 21:40, 14 November 2023 | 800 × 582 (118 KB) | Ozzie10aaaa (talk | contribs) | Uploaded a work by Minh-Tuan Huynh , Emilie Landais , Jean-Madeleine De Sainte Agathe , Anne Panchout , De Vanssay De Blavous-Legendre Caroline , Henri Bruel from https://www.sciencedirect.com/science/article/pii/S2214426923000058 with UploadWizard |
You cannot overwrite this file.
File usage
There are no pages that use this file.