Table 1 The clinical features of our patient compared to CdLs4, LGS/TRPS II and Kabuki Syndrome
Patient | CdLS-4 with RAD21 pathogenic variants | CdLS | LGS/TRPSII | Kabuki syndrome | |
|---|---|---|---|---|---|
Facial dysmorphism | |||||
Arched, thick eyebrows | + | + | + | + | + |
Long eyelashes | + | + | + | − | + |
Depressed nasal bridge | + | + | + | + | + |
Anteverted nostrils | + | + | + | − | − |
Large prominent ears | + | − | − | + | + |
Cleft palate | + | + | +(20%) | +(Rare) | +(Rare) |
Dental malocclusion | + | +(Rare) | + | +(Rare) | + |
Micrognathia/mandibular hypoplasia | + | +(Rare) | + | + | − |
Skeletal | |||||
Multiple exostosis | + | − | − | + | − |
Small hands and feet | + | +(Rare) | + | − | − |
Finger pads | + | +(Rare) | − | +(Rare) | + |
Clinodactyly of the fifth fingers | + | + | + | +(Rare) | − |
Scoliosis: thoracic | + | − | +(1/3) | + | + |
Respiratory | |||||
Recurrent respiratory infections | + | +(Rare) | + | + | − |
Cardiovascular | |||||
Congenital heart defect | + | +(Rare) | +(25%) | − | + |
Neurologic | |||||
Intellectual disability | + | + | + | + | + |
