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 specialists
853 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 solution
12 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 Cases
- Login to View the image
Diagnosis please. HSG.
Dr. Syam Sundar Patro1 Like7 Answers - Login to View the image
M.18yrs. Injury chest 2days.
Dr. Syam Sundar Patro1 Like7 Answers - Login to View the image
Mch.10yrs. Limping left 6 months.
Dr. Syam Sundar Patro0 Like5 Answers - Login to View the image
M.24yrs. A hard swelling at left high back 5 months. Chest-oblique view.
Dr. Syam Sundar Patro0 Like5 Answers - Login to View the image
M.55yrs. A large painless fungative mass over medial part of right clavicle. 3 months. Waiting for FNAC report.
Dr. Syam Sundar Patro1 Like3 Answers
339 Views
, 3 Likes
, 19 Answers