Dysmorphic features
The most frequently recorded dysmorphic features are hypotonic face (6/12 patients), full cheeks (9/13), low set ears (5/10), posteriorly rotated ears (7/12), hypertelorism (8/12), ptosis (8/13), epicanthal folds (6/12), peri-orbital fullness (7/11), anteverted nares (7/11), round tipped nose (9/11), long philtrum (7/9) and widely spaced nipples (7/9). Short stature (<-2 SDS for age and gender) was observed in 9/14 CSCF patients, ranging from -2.1 SDS to -4 SDS. Other less frequently reported features are listed in Table 1 .