Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation

Kosztolányi, György; Weisenbach, J; Méhes, K

doi:10.1002/ajmg.1320580303

Cited by 10 publications

(6 citation statements)

References 5 publications

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“…The phenotype of patients with Shprintzen-Goldberg syndrome includes craniofacial, skeletal, and other anomalies [Shprintzen and Goldberg, 1982;Sugarman and Vogel, 1981;Saal et al, 1995;Adès et al, 1995;Kosztolá nyi et al, 1995;Sood et al, 1996]. In Tables I-IV the clinical and radiologic findings on 4 new patients with SGS and the interim findings on patient 2 of the original report of Shprintzen and Goldberg [1982] are compared with those of 10 reported cases of SGS and the patients reported by Furlong et al [1987] and Lacombe and Battin [1993].…”

Section: Discussionmentioning

confidence: 95%

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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Section: Discussionmentioning

confidence: 95%

Shprintzen-Goldberg syndrome: A clinical analysis

et al. 1998

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“… * The data were taken from the present work and previous publications on SGS identified by a comprehensive search in pubmed [Sugarman and Vogel, 1981; Shprintzen and Goldberg, 1982; Furlong et al, 1987; Kozlowski et al, 1992; Lacombe and Battin, 1993; Adès et al, 1995; Kosztolanyi et al, 1995; Saal et al, 1995; Nishimura and Nagai, 1996; Sood et al, 1996; Hassed et al, 1997; Seemanova and Kozlowski, 1997; Greally et al, 1998; Mégarbané and Hokayem, 1998; Stoll, 2002; Topouzelis et al, 2003]. …”

Section: Discussionmentioning

confidence: 99%

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

Robinson

Neumann

Demuth³

et al. 2005

American J of Med Genetics Pt A

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The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective-tissue anomalies. There are no pathognomonic signs of SGS and diagnosis depends on recognition of a characteristic combination of anomalies. Here, we describe 14 persons with SGS and compare their clinical findings with those of 23 previously reported individuals, including two families with more than one affected individual. Our analysis suggests that there is a characteristic facial appearance, with more than two thirds of all individuals having hypertelorism, down-slanting palpebral fissures, a high-arched palate, micrognathia, and apparently low-set and posteriorly rotated ears. Other commonly reported manifestations include hypotonia in at least the neonatal period, developmental delay, and inguinal or umbilical hernia. The degree of reported intellectual impairment ranges from mild to severe. The most common skeletal manifestations in SGS were arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. None of the skeletal signs alone is specific for SGS. Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed.

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“…At present it remains uncertain whether the two groups represent distinct disorders. Greally et al [1998] summarized the findings in 15 patients, four they reported themselves and 11 from literature [Sugarman and Vogel, 1981; Shprintzen and Goldberg, 1982; Ades et al, 1995; Kosztolanyi et al, 1995; Saal et al, 1995; Sood et al, 1996]. Two other patients were reported on since then [Hassed et al, 1997; Megarbane and Hokayem, 1998], which led the latter authors to distinguish two disorders that are characterized by craniosynostosis and marfanoid habitus: SGC type I showing intellectual disability, hypotonia, and bowed long bones; and SGS type II with normal intelligence, aortic root anomalies, and mild skeletal dysplasia.…”

Section: Discussionmentioning

confidence: 99%

Germline mosacism in Shprintzen–Goldberg syndrome

Shanske

Goodrich

Ala‐Kokko

et al. 2012

American J of Med Genetics Pt A

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We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25-qter) in the etiology of SGS.

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Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation

Cited by 10 publications

References 5 publications

Shprintzen-Goldberg syndrome: A clinical analysis

Shprintzen-Goldberg syndrome: A clinical analysis

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

Germline mosacism in Shprintzen–Goldberg syndrome

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