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Table 1 Cases described

From: The eleventh reported case of Mulvihill-Smith syndrome in the literature

  Mulvihill and Smith (1975) Shepherd (1971) and Elliot (1975) Wong et al. (1979) Baraitser et al. (1988) Ohashi et al. (1993) Bartsch et al. (1994) De Silva et al. (1997) Ferri et al. (2005) Yagihashi et al. (2009) Fuhler-Stiller et al. (2010) Gebin et al. (2011)
Sex M M F M F M M F F M M
Age 17 3,4 14 7 30 20 4 25 28 16 24
Birth weigth 1800 g 1890 g 1800 g 1880 g 2700 g 3340 g 2600 g NR 2570 g 2290 g 2930 g
Consanguinity - - - - + - - - - - -
Short stature + + + + + + - + + + +
Microcephaly + + + + + + + + + + +
Pigmented nevi + + + + + + + + + + +
Loud and raucous + NR NR + - + + + + + +
>Facial fat + NR + + + + + + + + +
Hypertelorism NR + + - + + - - - + +
Alopecia + + NR NR - - - - + - -
Brachydactyly + + NR NR + + - NR + NR -
Visual change - - - NR - + - + + + +
Hypospadias + + + + + + + NR NR NR +
Diabetes + - - - - - - - + + -
Recurrent infections + + + - + + + + + + +
Deafness + + + + + + - + + + +
Development of tumor - - - - - Gastric - Tongue Pancreas Melanoma -
Mental retardation + + - + + + - + + + +
Sleep disorder NR NR NR NR NR NR NR + + NR +