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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… 
National Institutes of Health

Related topics

Related topics

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

Broader (3)

ArachnodactylyCraniosynostosisMarfan Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2002
2002
Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years.
A patient with Shprintzen-Goldberg syndrome was followed up for 24 years. The patient's parents were unrelated and unaffected… 
Highly Cited
1999
Highly Cited
1999
Homocysteinemia and livedoid vasculitis.
1998
1998
FG syndrome: report of three new families with linkage to Xq12-q22.1.
FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five… 
1998
1998
Pancraniosynostosis after surgery for single sutural craniosynostosis.
Three children who developed pancraniosynostosis after surgery to correct nonsyndromic single suture synostosis (2 sagittal, 1… 
1998
1998
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.
We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos… 
1997
1997
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus.
We report on a boy with Shprintzen-Goldberg syndrome, the 12th patient described to date. In addition to the commonly described… 
1992
1992
Surgical Correction of Unilateral Lambdoid Synostosis: Occipital Rotation Flap
Virchow (1851) is credited with initially describing calvarial development following premature closure of individual sutures. He… 
Highly Cited
1978
Highly Cited
1978
Surgical management of unilateral and bilateral coronal craniosynostosis: 21 years of experience.
From 1955 to 1975, 116 patients with unilateral and bilateral coronal synostosis, including 39 with craniofacial dysmorphism… 
1975
1975
Multiple endocrine adenomatosis type IIb. Diagnosis and treatment.
A 29-year-old man with a marfanoid habitus, peculiar mucosal neuromas of the lips and tongue, high arched palate, hyperplastic… 
Review
1972
Review
1972
Pheochromocytoma, medullary thyroid carcinoma, multiple mucosal neuroma. A variant of the syndrome.
A case report and review of the literature help to define a syndrome consisting of highly visible corneal nerves, thickened… 
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