Noonan syndrome
A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
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Short neck+ Widely placed nipples + CTEV +. Umbilical hernia + Over riding thumb over index finger + Search for cardiac and renal anomalies Adv karyotyping. It may be a case of SYNDROMIC BABY. To which syndrome it belongs may be infer...
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Recent Cases of Noonan syndrome
Browse recently discussed Noonan syndrome cases by specialistsTop Cases of Noonan syndrome
Selected by editors, top cases are known for unique problem or best solutionTop Noonan syndrome Doctors on Curofy
Top doctors who continously share their opinions on Noonan syndromeBHASKARA HOSPITAL
OBSTETRICIAN &GYNECOLOGIST
Kakatiya Medical College
M.D ( OB&GY )
National Institute of Medical Science
Md Paediatrics
National Institute of Medical Science
MD pediatrics
Super Specialist in Reproductive Endocrinology
AADESH MEDICAL COLLEGE
Associate Professor HEAD OF UNIT PAEDIATRIC
Dr SN Medical College Jodhpur
MD PAEDS
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This is a case of my brother - A 47-year-old male complains of pain in his right wrist while lifting anything with hand or twisting the wrist even a little bit. Pain occurs occasionally on rest. He also has pain in his both shoulders. Radiographic images of wrist are attached. Can you diagnose the cause? Let me know if you have any query.
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