Patient with craniosynostosis and marfanoid phenotype (Shprintzen‐goldberg syndrome) and cloverleaf skull

Saal, Howard M.; Bulas, Dorothy; Allen, Jill Fonda; Vezina, L. Gilbert; Walton, Dawn M.; Rosenbaum, Kenneth N.

doi:10.1002/ajmg.1320570411

Cited by 33 publications

(12 citation statements)

References 12 publications

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“…We can speculate whether the heterozygous change c.8881G (p.A2961T) in DYNC2H1, a gene that has been found mutated in patients with ATD-JS or SRPs types II and III, might have an additional impact. The variant in the SKI gene is not disease-causing by itself, but a patient reported as having Shprintzen-Goldberg syndrome had "cloverleaf skull" associated with coronal and lambdoidal craniosynostoses (though molecular delineation was not available) [Saal et al, 1995].…”

Section: Discussionmentioning

confidence: 99%

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Lin

Traum

Sahai

et al. 2013

American J of Med Genetics Pt A

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Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. Dramatic advances with next‐generation sequencing have expanded its phenotypic variability and molecular heterogeneity. We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome. In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport. We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy‐Jeune syndrome (ATD‐JS) and other ciliopathies. Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome. Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD‐JS. Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome. Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis. Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis‐Van Creveld syndrome. We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype. Additional natural history data will improve genetic counseling and current guidelines. © 2013 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Lin

Traum

Sahai

et al. 2013

American J of Med Genetics Pt A

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“…Saal et al [1995], Adès et al [1995], and Kosztolá nyi et al [1995] reported a total of 6 female patients with Shprintzen-Goldberg syndrome. Two further females with SGS were reported by Sood et al [1996].…”

Section: Introductionmentioning

confidence: 98%

Shprintzen-Goldberg syndrome: A clinical analysis

et al. 1998

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Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later. The clinical and radiologic findings on our patients are compared with those of the previously reported patients and also with those of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224], who share many of the characteristics of Shprintzen-Goldberg syndrome. Some of the clinical data are helpful in determining if the patients of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a variant of Shprintzen-Goldberg syndrome. However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus.

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“…1,3 There are more than 20 cases reported in the literature but, to our knowledge, no prior descriptions of tetralogy of Fallot or subaortic stenosis. 4,5 As in Marfan syndrome, the mutation in Shprintzen-Goldberg syndrome affects the gene for fibrillin located on 15q21.1.…”

Section: Discussionmentioning

confidence: 99%

Shprintzen-Goldberg Syndrome With Tetralogy of Fallot and Subvalvar Aortic Stenosis

Pauliks

Chan

Lorts

et al. 2005

Journal of Ultrasound in Medicine

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Patient with craniosynostosis and marfanoid phenotype (Shprintzen‐goldberg syndrome) and cloverleaf skull

Cited by 33 publications

References 12 publications

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Shprintzen-Goldberg syndrome: A clinical analysis

Shprintzen-Goldberg Syndrome With Tetralogy of Fallot and Subvalvar Aortic Stenosis

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