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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A 57 yrs old male patient c/o sudden vision loss/left side weakness/agitated/fever bodyache *Chief Complaints* Sudden vision loss Left side weakness Unable to walk Agitated urge to pee/poop but nothing comes out when he go Bodyache *History* CVA with left hemisphere 3 yrs back K/c/o HTN/DM *Vitals* BP 150/80 Pulse 68 Spo2 98 *Physical Examination* B/L Pupils dilated Left side weakness Chest -B/L clear P/A- soft no any tenderness or distension CNS -Alert and aware Genitals -Normal *Investigations* Attached *Diagnosis* CVA with HTN/DM ?TIA/Retinal detachment *Management* Medically conservative Kindly suggest
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