Table 1

Clinical features of the patients studied

FamilyIDAge1-150 SexGastrointestinal tract1-160 SkinSkeletalCNSCardiacBreastThyroidOtherAdditional information
W347FCaecal Ca aged 47, jejunal JPs and adenomas, TA
W132FCa colon (transverse) aged 32,BBDHyper
SK113FMultiple colonic polyps
(mixed, Ad and JPs)
SRO113FMultiple JPsP
SS129F(50+) JPsNiece Ca colon (25); sister Ca pancreas; father Ca larynx and stomach
SV112MSigmoid and rectal polyps (50+)Father Ca colon aged 48; Pat. uncle Ca colon aged 50
SH11MMultiple colonic polyps, resection aged 8CLP, PD
SC116MColonic (30-50)MC
SD115MJejunal polpysCD
SR14FRecto-sigmoid and Caecal polyps (50+)VSD
AF116MColonic polyps (4)Father JPs and Ca colon1-165
SCA127FMultiple sigmoid polyps
33.537MColonic and gastric polyps
4.26MIleal, jejunal, colonic, and rectal polyps; Ca ileum; Ca stomach
2.365FColonic and rectal polypsML
1010241FCa colon
20221MIleum and colon
120432FSmall bowel, colonic and gastric polyps (JPs and Ad, 20+); Ca ileum aged 49; intussusceptionSister, lymphoma aged 42, Ca breast aged 54.
30216MColonic polyps
30121FColonic polyps (20)
630223MColonic and small intestinal polyps (50+)MC
4029FColonic polyps
20155FColonic polyps (3)
40112MColonic polyps (2)
114.418MColonic polyps (3)HT
3.530MColonic polypsFKSR
81.250FCa colon aged 50
3.120MCaecal polyps
2.118FMultiple JPS; Ca stomach
930117MColonic polyps
20319FJPs and Ad polyps in colonBK
3024MColonic polypsAS and CO
1550214MMultiple colonic polypsCL
30551FCa colon (transverse) aged 51, multiple colonic polypsHypoBrother Ca colon aged 38, multiple colonic polyps
30643MColonic polyps (10)
30861MCaecal Ca aged 61
40548FMultiple colonic polypsCLARHyperOVC
122048MMultiple colonic polyps; Ca jejunumSAH
2068MMultiple colonic polyps
2017MPolyposis at autopsy
3074FFlorid colonic polyposis; small intestinal polyps (22); Ca small intestine aged 27.OVC
30422FCaecal and colonic polyps
30817MMultiple (TA, Ad and JP) in colon and duodenum; Ca jejunumMC
2037MCa jejunum aged 37Schiz
1610219FCa colon aged 60BBD
30113F20+ polyps
30214MMultiple colonic polyps
20132MMultiple polyps in colon and stomach
17202NKM>100 gastric JPs, 8 colorectal JPs
203NKMGastric JPsML
20201NKFExtensive polyposis, colectomy aged 45
301NKFColorectal JPs; colectomy aged 21OVC
BL10139MColonic polyps (TA +Ad)
2016F>100 JP, exocrine pancreatic insufficiencyShort stature, development delay
  • 1-150 At diagnosis (NK, not known);

  • 1-160 number of polyps in parentheses;

  • 1-165 familial case but only index case analysed.

  • Ad, adenoma; AR, aortic regurgitation; AS, aortic stenosis; BBD, benign breast disease; BK, bifid kidney; Ca, Cancer; CD, conduction defect; CLP, cleft palate; CL, clinodactylyl; CO, coarctation; FK, excessive freckling; HT, hypertelorism; Hyper, hyperthyroidism; Hypo, hypothyroidism; JPs, juvenile polyps; MC, marcocephaly; ML, multiple lipomas; OVC, ovarian cyst; P, poryphria; PD, polydactylyl; SAH, subarchnoid haemorrhage; Schiz, schizophrenia; SR, Schatski ring; TA, tubular adenoma; VSD, ventricular septal defect.