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.
Recent Cases of Noonan syndrome
Browse recently discussed Noonan syndrome cases by specialists853 Views
, 8 Likes
, 16 Answers
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...
Top Cases of Noonan syndrome
Selected by editors, top cases are known for unique problem or best solution11 Views
, 11 Likes
, 12 Answers
3 Views
, 7 Likes
, 2 Answers
Top 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
Trending Diseases
Trending Cases
- Login to View the image
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?
Doc Insights6 Likes10 Answers- Login to View the image
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.
Wahib Zaidi1 Like5 Answers - Login to View the image
F.29yrs. Palpitation & DOE 2yrs.
Dr. Syam Sundar Patro0 Like4 Answers
338 Views
, 3 Likes
, 19 Answers