Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm. Investigations demonstrated severe anaemia (5.7 g/dL) and thrombocytopenia (34 x 109/L). Radiological signs which help in the diagnosis include diffuse sclerosis, bone within bone appearance, sandwich vertebrae and Erlenmeyer flask deformity. Plain radiography is an easily available and cost effective tool which can aid in the diagnosis of osteopetrosis.

BACKGROUND: Osteopetrosis is a rare hereditary disease that can be transmitted in an autosomal recessive or autosomal dominant.
METHODS: Here, we report a case of trochanteric fracture in an 18-year-old boy with an anatomical plate. At the last follow-up, 24 months after surgery, the fracture had healed well, and the patient was not restricted in his activities.
CONCLUSIONS: Osteopetrosis is a rare bone disease that is mainly caused by osteoclast dysfunction. It results from a remodelling defect that leads to hypermineralization of the skeleton, resulting in bone fragility. Both surgical and nonsurgical management have advantages and disadvantages. Thus, open reduction and anatomic plate fixation remain effective management modalities for trochanteric fractures in osteopetrosis patients.
CONCLUSIONS: For our patient and as described in the literature, the complication rate decreases as some principles are respected with better consolidation of the osteoporotic fracture.

Osteopetrosis is an uncommon and inherited disorder. Some disease-specific characteristics, such as diffuse osteosclerosis and a high incidence of fractures, may potentially affect postoperative rehabilitation. This report presents a case of successful rehabilitation early after total hip arthroplasty for osteopetrosis. A 56-year-old Japanese man, who was diagnosed with osteopetrosis at the age of 11, underwent total hip arthroplasty in the right hip. Full weight-bearing was allowed on the day after the operation; the postoperative rehabilitation program was proceeded based on a standard program as done after total hip arthroplasty for osteoarthritis. A shoe lift in the left leg was used in supervised walking training to correct the imbalanced alignment due to leg length discrepancy. The patient could walk independently with a cane 17 days after the operation. Three weeks after the operation, the patient demonstrated comfortable and maximal walking speed of 1.11 and 1.34 m/s, respectively, and maximal hip abductor muscle strength of 3.96 kgf･m, both of which were better than those before the operation. There were no adverse events during the postoperative rehabilitation course. These findings suggest the safety and efficacy of standard rehabilitation programs after total hip arthroplasty even in individuals with osteopetrosis. In addition, it may be important to consider the whole-body condition in the rehabilitation of individuals with osteopetrosis.

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The rare case of a 5‑year-old girl with autosomal dominant osteopetrosis type 2, who suffered metaphyseal fractures of the femoral neck on both sides within 6 months is described. On the right side, the diagnosis was made 3 months after the onset of symptoms, so that a coxa vara occurred. The treatment was surgically treated through a valgus osteotomy with fixation of the femoral head with K‑wires. Three months after the operation, the girl complained of a painful restriction of movement on her left side. Radiologically, a metaphyseal femoral neck fracture without coxa vara was diagnosed and in situ fixated with 2 K wires. Two months after the second operation, there was a symmetrical free range of motion of the hips with no symptoms. The metaphyseal femoral neck fracture with verticalization of the growth plate is a serious disease in autosomal dominant osteopetrosis due to the development of a coxa vara, which, if diagnosed at an early stage, can be treated well with in situ fixation. If the coxa vara has already developed, a valgus osteotomy should be performed despite the risk of delayed bone healing.
UNASSIGNED: Es wird der seltene Fall eines 5‑jährigen Mädchens mit autosomal dominant vererbter Osteopetrose Typ 2 beschrieben, die innerhalb eines halben Jahres beidseits metaphysäre Schenkelhalsfrakturen erlitt. Auf der rechten Seite wurde die Diagnose erst mit 3 Monaten Verzögerung nach Auftreten der Symptome gestellt, sodass es bereits zu einer Coxa vara kam. Die Aufrichtung erfolgte operativ durch eine Valgisationsosteotomie mit Fixierung des Hüftkopfes mit Kirschner-Drähten. Drei Monate nach der Operation klagte das Mädchen über eine schmerzhafte Bewegungseinschränkung auf der linken Seite. Radiologisch konnte der Verdacht auf eine metaphysäre Schenkelhalsfraktur aber ohne Coxa vara gestellt werden. Es erfolgte die In-situ-Fixation mit 2 K-Drähten. Bereits 2 Monate nach der zweiten Operation zeigte sich ein symmetrisches freies Bewegungsausmaß der Hüften bei Beschwerdefreiheit. Die metaphysäre Schenkelhalsfraktur mit Vertikalisierung der Wachstumsfuge ist bei autosomal-dominant vererbter Osteopetrose aufgrund der Entwicklung einer Coxa vara eine ernstzunehmende Erkrankung, die, frühzeitig diagnostiziert, gut mit In-situ-Fixation behandelt werden kann. Bei einer bereits entstandenen Coxa vara sollte trotz der Gefahr der verzögerten Knochenheilung eine valgisierende Osteotomie vorgenommen werden.

Osteopetrosis is a group of diseases that affects the growth and remodeling of bone and characterized by over growth and sclerosis of bone, with thickening of the bony cortices, abnormal dental development and narrowing of the marrow cavities throughout the skeleton. It is an uncommon disease of unknown cause. A 5-year-old boy was suffering from infantile (severe form) osteopetrosis with cardiac enlargement, severe anemia, hepatosplenomagaly and radiographs showed generalized increase in bone density (chalky white), narrowing of skull base is reported here.

Osteopetrosis is a genetic syndrome characterized by the failure of osteoclasts to resorb bone. This leads to skeletal fragility despite increased bone mass, with fractures, dental abscesses, osteoarthritis and scoliosis being the most common complications. There are few reports of patients with type II osteopetrosis undergoing pregnancy and delivery. This case outlines the management of pregnancy and a successful delivery in a woman with this rare condition.

Osteopetrosis, or marble bone disease, is a rare skeletal disorder due to a defective function of the osteoclasts. This defect renders bones more susceptible to osteomyelitis due to decreased vascularity. This disorder is inherited as autosomal dominant and autosomal recessive. Healthcare professionals should urge these patients to maintain their oral health as well as general health, as this condition makes these patients more susceptible to frequent infections and fractures. This case report emphasizes the signs and symptoms of marble bone disease and presents clinical and radiographic findings.

Osteopetrosis (OP) is a rare congenital disorder (present at birth) in which the bones become over dense. This results from an imbalance between the formation of bone and the resorption of the bone. Thickening of the bones which become abnormally dense due to an inherited defect in bone resorption, the process in which old bone is broken down and removed so that new bone can be added to the skeleton. Osteoclasts are the cells responsible for bone resorption. In osteopetrosis the osteoclasts do not perform normally. This flaw in bone resorption results in bones that are abnormally dense, yet are fragile and easily broken. Osteopetrosis is also known as Albers-Schonberg disease, generalized congenital osteosclerosis, ivory bones, marble bones, osteosclerosis fragilis generalisata. In this article, we have described about the diagnosis and medical and surgical management of osteopetrosis reported case to our hospital.