{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:40:07Z","timestamp":1759725607578,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,4]]},"abstract":"<jats:p>A family study of undiagnosed protracted diarrhoea in infancy was undertaken, based on 67 such patients, seen at The Hospital for Sick Children, London, over a 6-year period. All were fully investigated with the exclusion of those with known cause, such as coeliac disease, cow's milk intolerance, or enteric infections. The families were traced and visited. The material is certainly heterogeneous. In the case of five patients the condition was associated with a syndrome. The remaining 62 index patients could be divided into a group of 15 with severe illness and 47 with a milder illness. Six had onset before one month of age, four died, and in five the diarrhoea lasted more than 12 months and the children persistently failed to thrive. These 15 severe cases had six affected sibs out of 22 (Weinberg proband method) and in all but one of these affected sibs the condition was also severe. Two further sibs had had protracted diarrhoea, but this had not been fully investigated. The 47 index patients with milder disease had 68 sibs of whom only one was affected (this boy was one of the severely affected index patients), and one other sib had protracted diarrhoea which was not fully investigated. It is proposed that the severe group includes one or more autosomal recessive entities, in which the basic defects are not yet known, but are likely to be inborn metabolic errors.<\/jats:p>","DOI":"10.1136\/jmg.18.2.81","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"81-86","source":"Crossref","is-referenced-by-count":5,"title":["A family study of protracted diarrhoea in infancy."],"prefix":"10.1136","volume":"18","author":[{"given":"F M","family":"Howard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C O","family":"Carter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D C","family":"Candy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J T","family":"Harries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1542\/peds.41.4.712","article-title":"Intractable diarrhoea in early infancy","volume":"41","year":"1968","unstructured":"Avery SB, Villavicencio 0, Lilly JR, Randolph JG. Intractable diarrhoea in early infancy. Pediatrics 1968;41: 712-22.","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1001\/archpedi.1973.04160030032006","article-title":"Protracted diarrhea of' infancy treated by intravenous alimentation","volume":"125","author":"s Lloyd-Still JD; H, Shwachmann; RM, Filler","year":"1973","unstructured":"s Lloyd-Still JD, Shwachmann H, Filler RM. Protracted diarrhea of' infancy treated by intravenous alimentation. AmJ Dis Child 1973;125:358-64.","journal-title":"AmJ Dis Child"},{"issue":"6","key":"ref_3","first-page":"597","article-title":"Intravenous feeding of young infants with p7e3r2s-i4s0t.ent diarrhoea","volume":"64","author":"Hyman, C.J.; Reiter, J.; Rodnan, J.; Parental, Drash A.L.; t7orr8aa, lc1t7ae-ld2i9mdeinatrarthiooena isnytnhdertormeeatmoefntinoffantchyenJonPesdpieacitfric1p9r7o1-; Banister, A.; Matin-Siddiqi, S.A.; Hatcher, C.W.; Henderickse, R.G.","year":"1975","unstructured":"Hyman CJ, Reiter J, Rodnan J, Drash AL. Parental and t7orr8aa:lc1t7ae-ld2i9md.einatrarthiooena isnytnhdertormeeatmoefntinoffantchye.nJonPesdpieacitfric1p9r7o1-; Banister A, Matin-Siddiqi SA, Hatcher CW, Henderickse RG. Intravenous feeding of young infants with p7e3r2s-i4s0t.ent diarrhoea. Acta Paediatr Scand 1975;64: 6 Larcher VF, Shepherd R, Francis DEM, Harries JT. Protracted diarrhoea in infancy. Arch Dis Child 1977;52: 597-605.","journal-title":"Acta Paediatr Scand; Protracted diarrhoea in infancy"},{"key":"ref_4","article-title":"Familial enteropathy: a syndrome of protracted diarrhoea from birth, failure to thrive and hypoplastic villous atrophy. GCaasntdroyenDtCeAro, loLgayrc1h97e8r; V7F5:,78T3r-i9p0p","author":"Davidson, G.P.; Cutz, E.; Hamilton, JR, Gall; D.G.","unstructured":"Davidson GP, Cutz E, Hamilton JR, Gall DG. Familial enteropathy: a syndrome of protracted diarrhoea from birth, failure to thrive and hypoplastic villous atrophy. GCaasntdroyenDtCeAro,loLgayrc1h97e8r;V7F5:,78T3r-i9p0p.JH, et al. Lethal familial protracted diarrhoea of infancy. Arch Dis Child (in press).","journal-title":"JH, et al. Lethal familial protracted diarrhoea of infancy. Arch Dis Child"},{"key":"ref_5","first-page":"15","article-title":"Infant feeding 1975. Attitudes and practice in England and Wales","author":"Martin, J.","year":"1975","unstructured":"Martin J. Infant feeding 1975. Attitudes and practice in England and Wales. London: HMSO, 1975: 15."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.2.81","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:18:43Z","timestamp":1759724323000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.2.81"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,4]]},"references-count":5,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1981,4,1]]},"published-print":{"date-parts":[[1981,4]]}},"alternative-id":["10.1136\/jmg.18.2.81"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.2.81","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,4]]}}}