Cornelia de lange syndrome
A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
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Top doctors who continously share their opinions on Cornelia de lange syndromeGandhi Medical College.
M.B.B.S.
BHASKARA HOSPITAL
OBSTETRICIAN &GYNECOLOGIST
Kakatiya Medical College
M.D ( OB&GY )
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60 year old female patient presented with difficulty in passing urine and swelling near urethral opening. USG KUB report normal. What will be the diagnosis in this case?
Dr. Vivek Jha6 Likes18 Answers - Login to View the image
M.71yrs. Diagnosis please.
Dr. Syam Sundar Patro1 Like9 Answers - Login to View the image
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Intracranial tuberculomas are space-occupying masses of granulomatous tissue that result from hematogenous spread from a distant focus of tuberculous infection. Posting here Tuberculoma case, please share your insights and experience.
Dr. Kk Goyal3 Likes5 Answers - Login to View the image
F.49yrs. Chest pain,weakness Shortness of breath 1 month
Dr. Syam Sundar Patro0 Like5 Answers
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