Table 1 Clinical characteristics of our patients in relation to the clinical signs of RTS.
Clinical sign | Case #1 (sister) | Case #2 (brother) |
|---|---|---|
Erythema on the cheeks and face | Present | Present |
Poikiloderma | Present | Present |
Sparse scalp hair, eyelashes, and/or eyebrows | Present | Present |
Small size, usually symmetric for height and weight | Present | Present |
Gastrointestinal disturbance as a young child: chronic vomiting and diarrhea | Present | Present |
Dental abnormalities: hypoplastic teeth, enamel defects, delayed tooth eruption | Absent | Absent |
Nail abnormalities: dysplastic or poorly formed nails | Absent | Absent |
Hyperkeratosis (soles of the feet) | Absent | Absent |
Cataracts | Absent | Absent |
Skeletal abnormalities: radial ray defects, ulnar defects, absent or hypoplastic patella, osteopenia, abnormal trabeculation | Present | Present |
Cancers including skin cancers: basal cell carcinoma, squamous cell carcinoma, osteosarcoma | Present | Present |
