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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

+