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.
Recent Cases of Cornelia de lange syndrome
Browse recently discussed Cornelia de lange syndrome cases by specialistsTop Cornelia de lange syndrome Doctors on Curofy
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 )
Trending Diseases
Trending Cases
Artificial intelligence (AI) plays a significant role in medicine today and aids in investigating, diagnosing, and treating several medical conditions. Do you think AI should be a part of undergraduate training for medical students?
Dental-Insights5 Likes15 Answers- Login to View the image
Pus discharge sine 3 days *Chief Complaints* Discharging sinus track since 3 days started with boil *History* History of boil since 3 days followed with itching causing into make pouring puss *Vitals* All stable *Physical Examination* Normal sinus with puss on palpation fluctuating *Investigations* CBC Esr Crp Puss for culture sensitive all not sent poor socio economic status *Diagnosis* Infected sinus *Management* ?
Dr. Yashavardhan T M0 Like14 Answers - Login to View the image
10 year old female Rashes present since 2 days on back and one arm Itching burning Is it shingles? Plz suggest proper allopathic treatment
Dr. Shad Aman1 Like9 Answers - Login to View the image
F.25yrs. Diagnosis please.
Dr. Syam Sundar Patro2 Likes8 Answers - Login to View the image
29 Y female having B/L knee joint pain from past 3 months , no physical signs of inflammation. No history of trauma / fall , She is non obese , lean body Previous medical history Not significant Investigations Uric acid - normal X RAY knee joint AP & lat RX given VIT D3 60K Zerodol SP What
Wahib Zaidi1 Like8 Answers
450 Views
, 2 Likes