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 | + |