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Table 1 Summary of clinical signs according to molecular defects

From: Syndromic diarrhea/Tricho-hepato-enteric syndrome

  All (n = 48) Patients with 2 mutations in TTC37(n = 22) Patient with 1 mutation in TTC37(n = 3) Patient with 2 mutations in SKIV2L(n = 7) Patients not tested (n = 16) Patient from Alqoed (n = 7) Patient with mutation p.Trp936X (n = 5)
Consanguineous 21/44 14/21 0/3 4/7 3/13 6/7 5/5
Born before 37 we 19/45 11/21 2/3 3/6 3/15 1/7 2/5
Sex (F/M) 27/20 13/9 1/2 5/2 8/7 4/3 3/2
Birthweight mean 1825 (780–3.580) 1906 (780–3580) 1715 (1345–2100) 1473 (1010–2000) 1896 (1410–3250) 2.61 (1.6-3.9) 1986 (1375–2400)
Intractable diarrhea 48/48 22/22 3/3 7/7 16/16 7/7 5/5
Onset of diarrhoea (weeks) means 5.25 (1–32) 6.8 (1–32) 4 3.7 (1–4) 4.9 (1–24) 2 (1–5.7)  
Facial dysmorphy 47/47 22/22 3/3 6/6 16/16 6/7 5/5
Hair abnormalities 48/48 22/22 3/3 7/7 16/16 6/7 5/5
Trichorhexis nodosa 35/39 18/19 2/3 6/6 9/11 2/5 4/4
Immune deficiency 39/44 19/20 3/3 4/7 13/14 0/7 4/5
IUGR/SGA 31/46 12/21 2/3 5/7 12/15 5/7 5/5
Liver disease 23/44 11/19 0/3 3/6 9/16 2/7 2/3
Skin abnormalities 18/36 9/19 0/2 ¾ 6/11 7/7 2/5
Platelet abnormalities 5/21 5/17 0/2 0/2    2/3
Cardiac abnormalities 8/31 5/18 1/2 1/3 1/8   2/5
Outcome (died/alive) 18/30 5/17 0/3 2/5 11/5   3/2