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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Top Achondroplasia Doctors on Curofy
Top doctors who continously share their opinions on Achondroplasia
Florence 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
Trending Cases
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85 year female with fall on out stretched hand difficulty in movements of right forearm *Chief Complaints* Pain swelling deformity in right forearm *History* Fall on out stretched hand *Vitals* All stable *Physical Examination* Normal *Investigations* X-ray attached *Diagnosis* Both bone Foream fracture *Management* ?
Dr. Yashavardhan T M0 Like7 Answers - Login to View the image
F.69yrs. Cough,weakness. Loss of weight. High backache 4 months.
Dr. Syam Sundar Patro0 Like6 Answers - Login to View the image
Diagnosis please.
Dr. Syam Sundar Patro0 Like5 Answers Injury of toes with bleeding *Chief Complaints* Left toes injury due to heavy metal fallen on. Bleeding with 3/4 of part got detached from position *History* No *Vitals* Normal *Physical Examination* No *Management* TT given Nailed was excised Dressing done
Dr. Lalikant Yadav1 Like5 Answers- Login to View the image
M.68yrs. DOE. 10 days KCO- IHD
Dr. Syam Sundar Patro0 Like4 Answers
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