Syndrome of Shprintzen-Goldberg
See also the page of homonymy Syndrome of Shprintzen
The syndrome of Shprintzen-Goldberg associates a Craniosynostose implying the joinings coranales, sagittal and lambdoides, of the anomalies of the face, the anomalies of the bones (arachonodactylie, camptodactylie, of the flat feet, a deformation of the Sternum, a Scoliose or a hyperlaxitè ligamentaire), neurological anomalies, a light backwardness and malformations of the brain (hydrocéphalie, dilation of the ventricles side, malformation of Arnold-Chiari).
Cardiac anomalies are sometimes also found (prolapsus of the mitral valve, mitral insufficiency and aortic insufficiency). The dilation of the aorta is not very frequent. The other clinical signs are a thinness, a cryptorchidie among boys, a myopia and anomalies of closing of the abdominal wall.
The diagnosis is clinical and radiological. The gene in question is unknown although of rare case are in connection with a change of gene FBN1 coding the Fibrilline 1.
The principal diagnoses to be discussed are the Syndrome of Marfan and the Syndrome of Loeys-Dietz. The syndrome of Shprintzen-Goldberg and the Syndrome of Goldberg-Shprintzen are two different diseases.
Sources
- Marie T Greally, Shprintzen-Goldberg Syndrome in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005
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