Table 2 Selected clinical data in CdLS patients from China (n = 20)
From: Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
Anomaly findings | No. of cases | Percentage |
|---|---|---|
Facial anomalies | ||
synophrys | 18 | 90.0 |
hypertrichosis of the eyebrows | 18 | 90.0 |
long eyelashes | 17 | 85.0 |
hirsutism | 16 | 80.0 |
high arched palate | 13 | 65.0 |
low scalp hairline | 13 | 65.0 |
thin lips with down-turned corners | 13 | 65.0 |
lowset ears | 11 | 55.0 |
Broad, depressed nasal bridge | 11 | 55.0 |
long shallow and prominent philtrum | 11 | 55.0 |
Bone anomalies | ||
small hands with short and thin finger tips | 17 | 85.0 |
hypophalangism | 17 | 85.0 |
microsomy | 16 | 80.0 |
the 5th finger clinodactyly | 13 | 65.0 |
Other anomalies | ||
simian line on palms | 13 | 65.0 |
genital anomaly | 12 | 60.0 |
congenital heart anomaly | 11 | 55.0 |
cutis marmorata | 10 | 50.0 |
Clinical symptoms | ||
Refractory vomiting | 20 | 100 |
Feeding difficulty | 20 | 100 |
Developmental retardation | 11 | 55.0 |
Loss of the development follow upa | 8 | 40.0 |
Increased muscle tone | 9 | 45.0 |
Decreased muscle tone | 2 | 10.0 |