Table 1 Characteristics of ALGS patients in our cohort in comparison to previously reported studies
From: Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene
Characteristics | The present study No. patients (n = 17) | Vietnamese ALGS individuals No. patients (n = 18) [23] | European/American ALGS individuals No. patients (n = 326) [33] |
|---|---|---|---|
Facial dysmorphism | 100% | Not detected | 96% |
Hepatic manifestation | 100% | 100% | 97.3% |
Jaundice | 52.9% | Â | Â |
Pruritus | 88.2% | Â | Â |
Hepatomegaly | 64.7% | Â | Â |
Elevated liver enzymes | 94.1% | Â | Â |
Paucity of interlobular bile ducts by liver biopsy | 29.4% | Â | Â |
Splenomegaly | 23.5% | Not detected | Not detected |
Cardiac abnormalities | 88.2% | 94% | 97.9% |
Peripheral pulmonary stenosis | 73.4% | Â | Â |
Patent ductus arteriosus | 33.4% | Â | Â |
Atrial septal defect | 13.4% | Â | Â |
Ventricular septal defect | 6.7% | Â | Â |
Skeletal abnormalities (Butterfly vertebrae) | 64.7% | 94.1% | 57.9% |
Eye examination | 41.1% | 100% | 68.3% |
Posterior embryotoxon | 35.2% | Â | Â |
Optic nerve drusen | 5.9% | Â | Â |
Xanthoma | 11.8% | Not detected | Not detected |
Hiatus hernia by upper endoscopy | 11.8% | Not detected | Not detected |
Pelvi-ureteric obstruction | 5.9% | 27.3% | 30.5% |