Table 1 Clinical and genetic findings in four patients with HFS
Case 1 | Case 2 | Case 3 | Case 4 | |
|---|---|---|---|---|
Mutation in the ANTXR2 gene | c.969del (p.Ile323Metfs*14) | c.134 T > C (p.Leu45Pro) | c.1073dup (p.Ala359Cysfs*13) | c.1073dup (p.Ala359Cysfs*13) |
Parental consanguinity | First cousin | First cousin | First cousin, once removed | First cousin |
Status | Deceased (6 months) | Deceased (10 months) | Alive (2 years old) | Deceased (1.5 years) |
Age of onset | 3 months | 1 month | Birth | Birth |
Skin findings | Erythematous plaques on torso, hyperpigmentation, skin thickening | Perianal plaques, hyperpigmentation, skin thickening | Papular lesions on forehead, ears, and around the nose, hyperpigmentation, skin thickening | Perianal plaques, perioral papules, hyperpigmentation, skin thickening |
Joint contractures/pain | + | + | + | + |
Low bone density | + | – | – | – |
Gingival hypertrophy | + | + | + | + |
Recurrent diarrhea | + | + | – | + |
Respiratory infections | + | + | + | + |