| A rare primary bone dysplasia characterized by postnatal growth retardation, generalized lipodystrophy, skeletal (delayed closure of sutures, clavicular hypoplasia, dysplastic femoral head, acroosteolysis of distal phalanges, osteopenia/osteoporosis) and cardiac manifestations (including left ventricular hypertrophy, mitral valve calcifications/prolapse/insufficiency and mitral regurgitation), skin changes (atrophic skin, poikiloderma and hyperkeratosis), progeroid traits, and dysmorphic facial features (including prominent eyes, long pinched nose, full cheeks, microstomia and mandibular hypoplasia). Most of the patients also present with sparse body hair, nail dystrophy, joint contracture, hypotonia, hepatosplenomegaly and hypertension. Additional clinical features may include renal glomerulosclerosis and severe proteinuria, recurrent pulmonary infections and seizures. |
