Table 1 Signs and symptoms CdLS and clinical finding of patients in this study
Signs and symptoms CdLS | Case 1 | Case 2 | ||
|---|---|---|---|---|
Growth | IUGR | Suggestive | − | − |
Short stature | Suggestive | − | + | |
Microcephaly | Suggestive | + | + | |
Craniofacial features | Brachycephaly | Suggestive | − | − |
Low anterior hairline | Other clinical Findings | − | + | |
Arched, thick eyebrows | Cardinal | − | − | |
Synophrys | Cardinal | − | + | |
Long eyelashes | Other clinical Findings | + | + | |
Depressed nasal bridge | Cardinal | − | + | |
Anteverted nostrils | Cardinal | + | − | |
Broad nasal tip | Cardinal | − | − | |
Long, smooth philtrum | Cardinal | + | + | |
Thin upper vermilion | Cardinal | − | + | |
Downturned corners of the mouth | Cardinal | − | − | |
Highly arched palate | Other clinical Findings | − | + | |
Widely spaced teeth | Other clinical Findings | − | − | |
Micrognathia | Other clinical Findings | − | + | |
Low-set and malformed ears | Other clinical Findings | + | − | |
Trunk and limbs | Oligodactyly and adactyly (hands) | Cardinal | − | − |
Small hands | Suggestive | − | − | |
Proximally placed thumbs | Other clinical Findings | − | − | |
Clinodactyly or short fifth finger | Suggestive | − | − | |
Small feet | Suggestive | − | − | |
Hirsutism | Suggestive | − | − | |
Cardiovascular anomalies | Other clinical Findings | + | + | |
Vertebral anomalies | Other clinical Findings | − | − | |
Congenital diaphragmatic hernia | Cardinal | − | − | |
Cognition and behaviour | Intellectual disability (any degree) | Suggestive | + | − |
ASD | Other clinical Findings | − | − | |
Self-injurious behavior | Other clinical Findings | − | − | |
Stereotypic movements | Other clinical Findings | − | − | |