Heart defect most commonly associated with genetic defect shown in the image:
A. Atrial septal defect
B. Patent ductus arteriosus
C. Coarctation of aorta
D. Ventricular septal defect
Ans:C. Coarctation of Aorta
Condition shown in the image is Turner syndrome:XO
Turner syndrome (45,X0)
- It is a condition in which a female is partly or completely missing an X chromosome.
Signs and symptoms
- Lymphedema, puffy legs of a newborn with Turner syndrome
- Of the following common symptoms of Turner syndrome, an individual may have any combination of symptoms and is unlikely to have all symptoms.
- Short stature
- Lymphedema (swelling) of the hands and feet of a newborn
- Broad chest (shield chest) and widely spaced nipples
- Low posterior hairline
- Low-set ears
- Reproductive sterility
- Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrotic)
- Amenorrhoea, the absence of a menstrual period
- Increased weight, obesity
- Shortened metacarpal IV
- Small fingernails
- Characteristic facial features
- Webbed neck from cystic hygroma in infancy
- Aortic valve stenosis
- Coarctation of the aorta and Bicuspid aortic valve : the two most common cardiovascular malformations.
- Horseshoe kidney
- Visual impairments – sclera, cornea, glaucoma, etc.
- Ear infections and hearing loss
- High waist-to-hip ratio (the hips are not much bigger than the waist)
- Attention deficit hyperactivity disorder (problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence)
- Nonverbal learning disability (problems with maths, social skills, and spatial relations)
- Other features may include a small lower jaw (micrognathia), cubitus valgus,soft upturned nails, palmar crease, and drooping eyelids.