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Shprintzen-Goldberg Syndrome.

Authors

Greally MT.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2006 Jan 13 [updated 2013 Jun 13].

Excerpt

DISEASE CHARACTERISTICS:

Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation/incompetence, aortic regurgitation and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males, are also characteristic findings.

DIAGNOSIS/TESTING:

The diagnosis of SGS is suspected in individuals with characteristic clinical findings and radiographic findings showing C1-C2 abnormality, wide anterior fontanel, thin ribs, square-shaped vertebral bodies, and osteopenia. SKI is the only gene in which mutations are known to cause Shprintzen-Goldberg syndrome.

MANAGEMENT:

Treatment of manifestations: If aortic dilatation is present, treatment with beta-adrenergic blockers or other medications should be considered in order to reduce hemodynamic stress; surgical intervention for aneurysms may be indicated; surgical repair of abdominal hernias; standard management of cleft palate and craniosynostosis; surgical fixation of cervical spine instability; routine management for clubfoot deformity; surgical correction for pectus excavatum is rarely indicated; physiotherapy for joint contractures; developmental assessment with placement in special education programs. Prevention of secondary complications: Subacute bacterial endocarditis (SBE) prophylaxis is recommended for dental work or other procedures for individuals with cardiac complications. Surveillance: Management by a cardiologist familiar with this condition is recommended. Agents/circumstances to avoid: Contact sports; use of agents that stimulate the cardiovascular system; activities that may lead to joint pain and/or injury.

GENETIC COUNSELING:

Shprintzen-Goldberg syndrome (SGS), resulting from a heterozygous mutation in SKI, is inherited in an autosomal dominant manner. Most individuals with SGS have unaffected parents suggesting that the causative mutation has occurred either as a de novo event in the affected individual or as a result of germline mosaicism in one of the parents. Affected sibs born to unaffected parents support the occurrence of germline mosaicism in some families with SGS.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

PMID:
20301454
[PubMed]
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