Table 1.
Buiting et al., 2008 [2] | Béna et al., 2010 [1] | Present case | |
---|---|---|---|
Deletion positions (Mb) in chromosome 14 (hg 19) | 100.396–101.502 | 100.400–101.500 | 100.388–101.506 |
Sex | Female | Female | Female |
Age (years) | 14 | 4 | 20 |
Pre- and postnatal growth retardation | + | + | + |
Hypotonia | + | + | + |
Feeding problems | + | + | + |
Precocious puberty | + | ? | + |
Intellectual disability | + | + | + |
Dysmorphism | − | High forehead, small chin, posteriorly rotated ears, and flat feet | Flat face, flat philtrum, thin lips, tapering fingers, clinodactyly of the fifth finger on the right hand, and clubbing feet toes |
Others | − | Hypermetropia | − |
+: present; −: not present; ?: undetermined yet.