Patient 1 | Patient 2 | |
---|---|---|
Skin and hair | ||
Dark skin | + | + |
Hyperkeratosis | - | - |
Dermatitis/eczema | - | - |
Sparse/absent scalp hair | + | + |
Curly hair | - | - |
Loose anagen hair | + | + |
Head and neck | ||
Macrocephaly | + | + |
Eyes | ||
Ptosis | - | + |
Epicanthal folds | + | + |
Nose | ||
Depressed nasal bridge | - | - |
Anteverted nostrils | - | - |
Oral cavity | ||
High-arched palate | - | + |
Ears | ||
Apparently low-set ears | + | - |
Retroverted ears Neck | + | - |
Neck | ||
Broad, short, webbed | + | + |
Chest | ||
Pectus excavatum | + | + |
Cardiovascular | ||
VSD/ASD/PDA | + | - |
Cerebral abnormalities | ||
Dilated ventricles | - | - |
Mental retardation | - | + |
Tic | - | + |
Growth and development | ||
Short stature | + | + |
Lymphatic dysplasias | + | - |