{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074700,"version":"build-2065373602"},"reference-count":18,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,3]]},"abstract":"<jats:p>Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotility (69%), laryngotracheal clefts (44%), cleft palate or bifid uvula (34%), heart defects (29%), hypospadias (100% of males), renal or ureteral anomalies (42%), and mental retardation (38%). Affected relatives, often identified by hypertelorism, dysphagia, or hypospadias, had a much lower incidence of associated defects and mental retardation. They provide a more rounded but still biased view of a syndrome compatible with normal intelligence and life span. The data do not support a highly characteristic face in the G syndrome, which discriminates it from the phenotypically similar BBB syndrome. The variable expressivity and five cases of male to male transmission observed in 18 families are consistent with autosomal dominant inheritance. Vigilance for the morphological characteristics of G syndrome in patients with dysphagia is underscored by the potential for normal development with appropriate intervention.<\/jats:p>","DOI":"10.1136\/jmg.25.3.157","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"157-163","source":"Crossref","is-referenced-by-count":30,"title":["Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia."],"prefix":"10.1136","volume":"25","author":[{"given":"G N","family":"Wilson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W J","family":"Oliver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,3,1]]},"reference":[{"issue":"44","key":"ref_1","first-page":"655","article-title":"Stucking aind swallowing difticuiltics in infancy: diaignostic problcm of dysphagia","volume":"1944","author":"lllingworth RS","unstructured":"lllingworth RS. Stucking aind swallowing difticuiltics in infancy: diaignostic problcm of dysphagia. Arc\/h Dis Child 1944:44: 655-65.","journal-title":"Arc\/h Dis Child"},{"key":"ref_2","first-page":"50","article-title":"Gutenbcrgcr JE. 1'ellct JR. The G svndronmc of multipic congcnitall ainomaliilics. Bilrth 1)DeIct. 1969: V( 2): 95-l1 Littlc JR, Opitz JM","volume":"121","author":"JL, Opitz J.M.Friais","year":"1971","unstructured":"Opitz JM. Friais JL. Gutenbcrgcr JE. 1'ellct JR. The G svndronmc of multipic congcnitall ainomaliilics. Bilrth 1)DeIct. 1969:V(2):95-l1 Littlc JR, Opitz JM. The G svndromilc. Ani J I)is Child 1971:121:50)5-7.","journal-title":"The G svndromilc. Ani J I)is Child"},{"key":"ref_3","first-page":"290","article-title":"The patthologic anatomly of the","volume-title":"G svndromilc. Z Kiodler-lieilAd","volume":"11","author":"JM, Gilbert E.F.Viseskuil C.Mossmnan I.I.W.Opitz","year":"1972","unstructured":"Gilbert EF. Viseskuil C. Mossmnan IIW. Opitz JM. The patthologic anatomly of the G svndromilc. Z Kiodler-lieilAd 1972:11:290-8."},{"issue":"118","key":"ref_4","first-page":"81","article-title":"Studics of mallformaltion syndr-omics. VID. Thc G syndromc: further obscrvattions","volume":"1974","author":"JM, Kaisncr J.Gilbcrt E.F.Viscskuil C.Dcaon1 Ilicrimann J.P.R.Opitz","unstructured":"Kaisncr J. Gilbcrt EF. Viscskuil C. Dcaon.1. Ilicrimann JPR. Opitz JM. Studics of mallformaltion syndr-omics. VID. Thc G syndromc: further obscrvattions. Z Kiid(lelrheillk(l 1974:,118:81-5.","journal-title":"Z Kiid(lelrheillk(l"},{"key":"ref_5","first-page":"120","article-title":"466. Vain Bicrvlict JPGM. Vain Hcmcl JO. Faimiliair occuricncc of the","volume":"1970","author":"syndromc, Coburn T.P.G.","year":"1975","unstructured":"Coburn TP. G syndromc. Anii J Dis Child 1970):120:466. Vain Bicrvlict JPGM. Vain Hcmcl JO. Faimiliair occuricncc of the G syndromc. Clin Getnet 1975:7:238-44.","journal-title":"Anii J Dis Child; G syndromc. Clin Getnet"},{"key":"ref_6","first-page":"54","volume":"2","author":"Defects, Birtlh","year":"1975","unstructured":"Birtlh Defects 1975 XI( 2):54-7."},{"key":"ref_7","first-page":"66","article-title":"The G svndromc. A fourgcncrattion family studv","volume":"26","author":"J, Pederson I.L.Mikkelsen M.Ostcr","year":"1976","unstructured":"Pederson IL. Mikkelsen M. Ostcr J. The G svndromc. A fourgcncrattion family studv. Hio,n Hered 1976:26:66-71."},{"issue":"90","key":"ref_8","first-page":"157","article-title":"Hvpertelorismhypospaidias syndrome with larvngotraicheoesophageail cleft","volume":"1977","author":"Jr, Miller PR. Pathak A. Dccaincq HG","unstructured":"Miller PR. Pathak A. Dccaincq HG Jr. Hvpertelorismhypospaidias syndrome with larvngotraicheoesophageail cleft. 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Amii J Med Geitet 1979:3:59-64.","journal-title":"The G svndrome:; Amii J Med Geitet"},{"issue":"19","key":"ref_11","first-page":"473","article-title":"The G syndrome of dysphagia. ocular hvpertelorism aind hvpospaidias","volume":"1981","author":"S, Cotc G.B.Kaitsantoni A.Papadakou-L.-agovanni","unstructured":"Cotc GB. Kaitsantoni A. Papadakou-L-agovanni S. et al. The G syndrome of dysphagia. ocular hvpertelorism aind hvpospaidias. Clini Geniet 1981:19:473-8.","journal-title":"Clini Geniet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1399-0004.1983.tb00101.x","article-title":"Male to Imlelc trainsmission of the G syndrome","volume":"24","author":"D, Fairndon P.A.Donnati","year":"1983","unstructured":"Fairndon PA. Donnati D. Male to Imlelc trainsmission of the G syndrome. 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