Shprintzen–Goldberg syndrome
id:
shprintzen-goldberg-syndrome-217-3360691
title:
Shprintzen–Goldberg syndrome
text:
Shprintzen–Goldberg syndrome is a congenital multiple-anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the FBN1 gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg, and Greally et al. in 1998 failed to find a causal link to FBN1. At this time, the cause of Shprintzen–Goldbe
brand slug:
wiki
category slug:
encyclopedia
description:
Congenital medical condition
original url:
https://en.wikipedia.org/wiki/Shprintzen%E2%80%93Goldberg_syndrome
date created:
2010-11-10T12:44:02Z
date modified:
2024-09-13T07:05:59Z
main entity:
{"identifier":"Q3508694","url":"https://www.wikidata.org/entity/Q3508694"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/4e/Autosomal_dominant_-_en.svg","width":738,"height":1260}
fields total:
13
integrity:
16