Immunodeficiency associated with exomphalos-macroglossia-gigantism syndrome

Greene, Richard; Gilbert, Enid F.; Huang, Shih-Wen; Horowitz, Stuart; Levy, Robert L.; Herrmann, J.; Hong, Richard

doi:10.1016/s0022-3476(73)80072-1

Cited by 22 publications

(8 citation statements)

References 18 publications

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“…Immunodeficiency has been reported in Wiedemann-Beckwith syndrome but not, to date, in Perlman syndrome [9]. However, one infant with Perlman syndrome died of "sepsis" with bilateral pyelonephritis, and another developed Both conditions are associated with islet cell hyperplasia which can cause prolonged persistent neonatal hypoglycaemia.…”

Section: Discussionmentioning

confidence: 97%

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Grundy

Pritchard

Baraitser³

et al. 1992

Eur J Pediatr

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Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions.

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Section: Discussionmentioning

confidence: 97%

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Grundy

Pritchard

Baraitser³

et al. 1992

Eur J Pediatr

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“…Whereas some authors describe individual WBS patients with massive thymic hyperplasia [6] others have reported a significant hypoplasia of the thymus and the lymphatic tissue [81]. The absence of a functional immunoglobulin response led Greene et al [22] to postulate that at least some of the immunoglobulin deficiency may have resulted from Thelper cell deficiency. However, in these patients the immunoglobulin levels were not as markedly depressed as usual [22].…”

Section: Immunological Abnormalitiesmentioning

confidence: 99%

“…WBS patients with thymic hypoplasia may suffer from classic severe combined immunodeficiency disease. Therefore, it has been proposed that the main defect in this form is a dysgam-maglobulinaemia resulting from an immunodeficiency in the thymus [22]. The absence of a functional immunoglobulin response led Greene et al [22] to postulate that at least some of the immunoglobulin deficiency may have resulted from Thelper cell deficiency.…”

Section: Immunological Abnormalitiesmentioning

confidence: 99%

Wiedemann-beckwith syndrome

1988

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The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigantism are considered the most common manifestations, hence the alternative designation EMG-syndrome. The syndrome carries with it an increased risk of developing specific tumours. One of the more frequent metabolic changes is transient neonatal hypoglycaemia, the result of increased insulin secretion. Inheritance of the syndrome remains uncertain. Most cases are sporadic, but a number of familial cases have been reported. Present evidence suggests that WBS is an autosomal dominant trait with variable expressivity. This review summarizes the abundant literature on the subject and discusses recent molecular genetic developments that may explain the interrelationship between the clinical abnormalities, metabolic disturbances and development of tumours.

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“…While not a prominent feature of WBS, there have been reports of mild immune compromise and recurrent respiratory infections [4,28].…”

Section: Discussionmentioning

confidence: 99%

“Double-Muscle” Trait in Cattle: A Possible Model for Wiedemann-Beckwith Syndrome

Best

Gilbert‐Barness

Gerrard

et al. 2006

Fetal and Pediatric Pathology

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The Wiedemann-Beckwith syndrome (WBS) was first described in 1963 as a group of anomalies involving primarily macrosomia, macroglossia, and omphalocele. Histologic studies of WBS show nesidioblastosis of the pancreas, adrenocortical cytomegaly, and persistent metanephric blastema of the kidney. Multiple lines of evidence indicate that the human 11p15.5 region is the locus of abnormality in WBS. Insulin-like growth factor II (IGF-2) frequently has been considered a candidate gene, and expression of IGF-2 is known to be significantly delayed in fetal skeletal muscle of double-muscle (DM) cattle. Other candidate genes recently have been proposed for WBS. A number of recessive alleles in the bovine myostatin gene (GDF8, mapped to bovine chromosome 2 and apparently orthologous to the human 2q22 region) have been shown to be responsible for DM. Recently the first human case of deficient GDF8 function has been reported, confirming the importance of this gene. Bovine IGF-2 has been sequenced and localized to chromosome 25. The primary purpose of this study was to compare and contrast histologic findings in DM and WBS. Immunohistochemical staining confirms changes similar to nesidioblastosis in the pancreas. Other dysplastic changes of a cystic nature are seen in the adrenal. The renal histology of DM fetuses did not appear significantly different than controls.

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Immunodeficiency associated with exomphalos-macroglossia-gigantism syndrome

Cited by 22 publications

References 18 publications

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Wiedemann-beckwith syndrome

“Double-Muscle” Trait in Cattle: A Possible Model for Wiedemann-Beckwith Syndrome

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