Osteopetrosis
A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.
Recent Cases of Osteopetrosis
Browse recently discussed Osteopetrosis cases by specialistsIt can be seen in both of them
15 Views
, 8 Answers
Top Cases of Osteopetrosis
Selected by editors, top cases are known for unique problem or best solution6 Views
, 3 Likes
, 10 Answers
2 Views
, 1 Like
, 4 Answers
Top Osteopetrosis Doctors on Curofy
Top doctors who continously share their opinions on OsteopetrosisVSS.MEDICAL COLLEGE & HOSPITALS.
Professor Radiology. 1984 To 1993 Superintendent & Principal. 93 To 96 Director Medical Education.96 To 98.
Patna Medical College.
MD
General Hospital Kanakapur
Md Pediatrics
MD Pediatrics
pediatrics
Self Employed. Now Doing My Practice
Pediatric Consultant
MKCG MCH
MBBS and MD (pediatrics)
Burdwan Medical College
ms
Radiologist
District Hospital
SN MEDICAL COLLEGE,
DMRD
Trending Diseases
Trending Cases
Under Ayushman Bharat PM-JAY health insurance scheme, the Union government has provided free annual health coverage of Rs 5 lakh to all senior citizens aged 70 and above, regardless of their income. Do you believe the age limit should be extended to include senior citizens under 70 years of age?
Doc Insights5 Likes17 AnswersA 40 year male having multiple joint involvement, PIP ,wrist , right shoulder, knee joint He has presentation of migratory arthritis. On physical examination he has subcutaneous nodules (painless & non tender) on both forearm since 3 years. *On asking he said his R.A FACTOR was Negative* What should be the next line of investigations. & DDx ? *Chief Complaints* He is suffering from pain & tenderness in joints. Assymetric joint involvement. From last 3 years *History* No family history of arthritis *Physical Examination* Subcutaneous nodules painless non tender on forearms
Wahib Zaidi0 Like7 Answers- Login to View the image
12 year old boy c/o these lesions from past 3 months (appeared in winter 1st time) As per parents, these are not active lesions, earlier they were more erythematous and dry, when child scratches bleeding+ *History* On Elbow he has LICHEN NITIDIS I was suspecting him to be ATOPIC , on taking history, his brother's father (chacha) has ASTHAMA & his Maternal side also has ASTHAMA.
Wahib Zaidi0 Like5 Answers - Login to View the image
Pedunculated subserous fibroid torsion *Chief Complaints* Abdominal pain with vomiting *History* 45 year old Para 2 previous 2 normal vaginal deliveries presented with sudden onset abdominal pain with two episodes of vomiting. Pain gradually increased in intensity. Patient had history of heaviness in lower abdomen for 3 months. No history of loss of weight or appetite. *Vitals* Pulse 100/ min. BP 116/90 mmHg. *Physical Examination* Per abdomen mass palpable around 16 weeks size of gravid uterus mobile from side to side. Tenderness present . Per vaginal examination uterus irregularly enlarged to 16 weeks. Tenderness present. *Investigations* Ultrasound done revealed fibroid 9*8 cm in uterus in fundal area. Free fluid in pelvis present. *Diagnosis* Fibroid uterus with acute abdomen. *Management* Patient taken for emergency laparotomy and proceed. OT findings :Fundal subserous pedunculated fibroid with torsion of two and half turns with intra fibroid hemorrhage and necrosis. Rest uterus normal. Bilateral ovaries and fallopian tubes normal. Peritoneal fluid hemorrhagic. Myomectomy done and peritoneal lavage given.
Dr. Viraj R. Naik0 Like4 Answers
13 Views
, 2 Answers