Thelansis

  Autosomal dominant osteopetrosis type 2 is characterized by segmentary osteosclerosis, predominantly at the vertebral endplates, iliac wings, and skull base. Clinical manifestations include cranial nerve palsies, osteoarthritis of the hip, mandibular osteomyelitis, and nontraumatic fractures, particularly of the long bones. OPTA2 is responsible for 70% of autosomal dominant osteopetrosis cases. Symptoms and severity can vary greatly, ranging from the neonatal onset with life-threatening complications to the incidental finding of osteopetrosis on X-ray. Depending on the severity and age of onset, features may include fractures, short stature, compressive neuropathies, hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. There may be neurological impairment or involvement of other body systems in rare cases. Osteopetrosis is classified based on clinical features, mode of inheritance and molecular mechanism. There are various clinical features and genes...

 Autosomal dominant osteopetrosis type 2 is characterized by segmentary osteosclerosis, predominantly at the vertebral endplates, iliac wings, and skull base. Clinical manifestations include cranial nerve palsies, osteoarthritis of the hip, mandibular osteomyelitis, and nontraumatic fractures, particularly of the long bones. OPTA2 is responsible for 70% of autosomal dominant osteopetrosis cases. Symptoms and severity can vary greatly, ranging from the neonatal onset with life-threatening complications to the incidental finding of osteopetrosis on X-ray. Depending on the severity and age of onset, features may include fractures, short stature, compressive neuropathies, hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. There may be neurological impairment or involvement of other body systems in rare cases. Osteopetrosis is classified based on clinical features, mode of inheritance and molecular mechanism. There are various clinical features and genes in...