Achondroplasia
An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.
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thanks for the interest, comments and your contribution to this case of achondroplasia.lt has enlightened me.
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THE CONCLUSION OF THE CASE OF KERSTACONUS IS THAT WE AS OPHTHALMOLOGISTS SHOULD KNOW WHOLE SCENERIO OF KERSTACONUS THAT IS WHAT ARE MEDICAL CONDITIONS ASSOCIATED WITH THIS DISORDER AND WHST ARE OPHTHALMIC CONDITION ASDOCIATIONS HERE I HAVE...
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Metaphyseal flaring of femur and tibia. Long fibula-the fibular head present at the level of tibial plateau. Characteristic features of achondroplasia.
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Recent Cases of Achondroplasia
Browse recently discussed Achondroplasia cases by specialistsTop Cases of Achondroplasia
Selected by editors, top cases are known for unique problem or best solution254 Views
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Top Achondroplasia Doctors on Curofy
Top doctors who continously share their opinions on AchondroplasiaFlorence Hospital
Sr Consultant Ophthalmologist
POSTED MORE THAN 1600 OPHTHALMIC ARTICLES TILL DATE
Sangrur
Distt.Immunization Officer
Guru Gobind Singh Govt. Medical College, Faridkot
MBBS,DCH
National Institute of Medical Science
Md Paediatrics
National Institute of Medical Science
MD pediatrics
Self Employed. Now Doing My Practice
Pediatric Consultant
MKCG MCH
MBBS and MD (pediatrics)
VSS.MEDICAL COLLEGE & HOSPITALS.
Professor Radiology. 1984 To 1993 Superintendent & Principal. 93 To 96 Director Medical Education.96 To 98.
Patna Medical College.
MD
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Diagnosis please.
Dr. Syam Sundar Patro0 Like10 Answers NCDs like heart disease, stroke, cancer, diabetes & chronic lung disease continues to be a major public health challenge in India. Chronic diseases like heart disease & cancer not only account for 63% of deaths in India but are expected to cost the country $3.55 trillion in lost economic output between 2012 and 2030. What is the major challenge for Chronic disease management in India?
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33 YEAR FEMALE C/O LT. KNEE PAIN & MILD SWELLING from 2 3 months
Wahib Zaidi0 Like5 Answers - Login to View the image
60 Y male having LRTI symptoms, Underwent CT CHEST , now he is recovered with the Standard Rx. But I PICKED CIRRHOTIC LIVER FINDING on CT CHEST meanwhile Patient is ASYMPTOMATIC No C/O CLD yet. I advised to do USG ABDOMEN to check for Findings of DECOMPENSATION. & LFT also appears normal On USG adomen** 1) INCREASED ECHOGENICITY of Liver 2) DILATED PORTAL VEIN I think Radiologist interpretated it as FATTY LIVER GRADE 2, but Dilated portal Vein + increased Echogenicity should be S/O CLD Life style He is NON ALCOHOLIC , NON SMOKER PT INR , HEP B , HEP C Reports are awaited.
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#dermatologist #pediatrician *Chief Complaints* 1yr old baby boy came with c/o blister on whole body since 10 months ( age 1yr old baby) Baby is 3rd child of the couple. *History* H/o Father :- H/o balanatis since 4 months No other comorbidities Mother:- athletes foot infection
Hadi Nasir Sayyed0 Like0 Answer
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