Table 3

Clinical features in our maternal UPD(14) patient and comparison with published cases, based on the review by Fokstuen et al2

Clinical findings Previously reported cases (n=13)2 Present case
Low birth weight9/11+
Hydrocephalus4/13(Relative macrocephaly)
Short stature11/12Failure to thrive
Mild developmental delay9/13+
Normal intelligence8/10Too young
Small hands10/11
Hyperextensible joints5/9
Scoliosis4/10Too young
Early onset of puberty8/8Too young
Recurrent otitis media5/9Too young