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.
Recent Cases of Achondroplasia
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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
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Sangrur
Distt.Immunization Officer
Guru Gobind Singh Govt. Medical College, Faridkot
MBBS,DCH
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National Institute of Medical Science
Md Paediatrics
National Institute of Medical Science
MD pediatrics
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Self Employed. Now Doing My Practice
Pediatric Consultant
MKCG MCH
MBBS and MD (pediatrics)
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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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M.22yrs. Had retention of urine 1 month back. Urethral catheter was put then and removed today. RGU,MCU
Dr. Syam Sundar Patro0 Like3 Answers - Login to View the image
MULTILOCULATED OVARIAN CYST *Chief Complaints* 46 year old female presented with sudden onset lower abdominal pain *History* 46 year old para 2 previous 2 LSCS presented with history of lower abdominal pain which was sudden in onset associated with nausea. Pain was not relieved by any medication. No history of abdominal distension or bloating. No history of loss of appetite or weight. *Vitals* Pulse 90/ min. BP 144/86 mmHg. *Physical Examination* Per abdomen there was mass palpable of variegated consistency around 24 weeks size of gravid uterus more on right side occupying right ileac fossa , right lumbar region and suprapubic region. Tenderness present on deep palpation. No free fluid. *Investigations* Ultrasound done revealed right ovarian neoplasm with multiple septae. CA 125 was 28 *Diagnosis* Right ovarian neoplasm with torsion *Management* Patient was taken for emergency laparotomy and proceed. OT findings Uterus normal size. Right sided multiloculated ovarian cyst with mucinous content . Fluid in cyst around 1.5 litres. No surface growth/ excrescences. Evidence of torsion of two and half turns around infundibulopelvic axis. Left ovary and fallopian tube normal. Right salpingo ovariotomy done. Patient fine
Dr. Viraj R. Naik2 Likes2 Answers - Login to View the image
Check out the answers of Quick Brains Quiz Quiz posted on - 16th February 2025 Topic - Female Hormones Part 2
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