Shprintzen-Goldberg syndrome

Known as: Shprintzen Golberg craniosynostosis syndrome, Marfanoid-Craniosynostosis Syndrome, Marfanoid craniosynostosis syndrome 
A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and… (More)
National Institutes of Health

Related topics

Related topics

35 relations
Aortic root dilationArnold-Chiari Malformation, Type IAutosomal dominant inheritanceBlepharoptosis
(More)

Broader (3)

ArachnodactylyCraniosynostosisMarfan Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Double-valve surgery in Shprintzen-Goldberg syndrome.
We describe the challenging case of a 28-year-old Jehovah's Witness patient who presented with symptomatic mitral and tricuspid… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2014
Highly Cited
2014
Gasoline Prices, Fuel Economy, and the Energy Paradox
Policymakers often assert that consumers undervalue future gasoline costs when they buy automobiles. We test this by measuring… (More)
  • table 1
  • table 2
  • table 3
  • table 4
  • table 5
Is this relevant?
2013
2013
Shprintzen-Goldberg Syndrome
A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull… (More)
Is this relevant?
2012
2012
Germline mosacism in Shprintzen-Goldberg syndrome.
We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS… (More)
Is this relevant?
2012
2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
Is this relevant?
2005
2005
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.
The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and… (More)
Is this relevant?
2003
2003
Shprintzen-Goldberg syndrome: case report.
OBJECTIVE The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. This is one of a group of… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family… (More)
  • table 1
  • table 2
  • table 3
  • table 4
  • figure 1
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
Recent reports have described a distinct and recurrent pattern of systemic malformation that associates craniosynostosis and… (More)
Is this relevant?
1996
1996
Radiographic findings in Shprintzen-Goldberg syndrome
We report the case of a Japanese boy whose dysmorphic features were consistent with those of Shprintzen-Goldberg syndrome. The… (More)
  • table 1
Is this relevant?