Formation Trivia Quiz

Answer: Lung

Hyaline membrane disease is now commonly referred to as respiratory distress syndrome (RDS) and is most prevalent in premature infants as their lungs have not developed completely. Infants with this condition characteristically develop fast and laboured breathing shortly after birth.

This condition is caused due to the lungs not being inflated enough in premature babies and it is also because the alveoli of the lungs contain a fluid-like material that has a glassy appearance. The collection of this material is due to a deficiency of a substance called surfactant in the lungs. Corticosteroids, specifically glucocorticoids, can be given to the mother during pregnancy to avoid this condition and to enhance the production of surfactant in the baby's lungs.

Answer: Esophageal atresia

Esophageal atresia is a birth defect in which the esophagus doesn't connect to the stomach but instead ends abruptly to form a pouch. Sometimes, this defect can be associated with another defect called tracheo-esophageal fistula (TEF) in which there is a small connection formed between the trachea and the esophagus.

Infants with esophageal atresia commonly present with excessive drooling after birth. The baby will reject oral feeding and will regurgitate what is fed to him/her. Diagnosis can be made by X-ray after passing a tube into the esophagus of the baby. Surgical repair is recommended in the presence of this birth defect.

Answer: Colon

Hirschsprung's disease is a birth defect which most commonly affects the colon and it is also known as aganglionic megacolon or congenital megacolon. In this condition, some specific nerve cells called ganglion cells are absent in certain parts of the large intestine (colon).

The lack of these nerve cells causes the lack of movement of the intestinal contents which results in enlargement of the colon (thus the name megacolon) and also in further obstruction of the large intestine in infants. The treatment for this condition is surgery in which the affected parts of the colon are removed.

Answer: Horseshoe kidney

Horseshoe kidney is a birth defect in which the kidneys of a person are joined together. This can occur at the lower or upper poles but it is most common in the lower poles. The kidney has a characteristic U-shape. There are usually no symptoms seen in this condition as, even though the kidneys are abnormally fused, their functions aren't affected.

As seen in the image, their connection to the urinary bladder is normal and separate. This condition is commonly associated with Turner's syndrome, which is a condition where a person is missing one of the two chromosomes that decides a person's sex.

Answer: Left atrium

The birth defect called tetralogy of Fallot involves four major abnormalities in the structure of the heart:

1. Ventricular septal defect - there is a hole in the interventricular septum which is not usually there in a normal heart. This hole allows a communication between the right and left ventricles, which is abnormal.
2. Right ventricular hypertrophy - the right ventricle of the heart is enlarged to an abnormal size.
3. Pulmonary stenosis - in a normal heart, blood flows from the right ventricle into the pulmonary artery through a valve. An obstruction is formed in this region that hinders the blood flow and is called pulmonary stenosis and this occurs in tetralogy of Fallot.
4. Overriding of the aorta - in a normal heart, blood flows into the aorta only from the left ventricle but in tetralogy of Fallot, blood flows into the aorta from both ventricles (right and left). This specific defect is called overriding of the aorta.

Tetralogy of Fallot is usually corrected by surgery and it recommended to be done as early as the first year of life.

Answer: Polydactyly

Polydactyly is a birth defect in which there are more than five digits (fingers or toes) in the hands or feet of a person. This can occur unilaterally (only on one side) or bilaterally (on both sides). The extra digit is most often incompletely developed and muscular development in it is minimal, limiting its usage. The extra digits most frequently occur at either side of the hands or feet and rarely in between the normal digits.

Syndactyly is a birth defect where there is either webbing between digits (cutaneous syndactyly) or bony fusion (osseous syndactyly) of the digits.
Brachydactyly is an abnormal reduction in the size of digits due to reduction in size of the bones in them called phalanges.

Meromelia is a birth defect where there is absence of part of a limb like absence of forearm in the presence of hand and arm or absence of leg in the presence of thigh and foot.

Answer: Hydrocephalus

Hydrocephalus is a condition where the size of the head is significantly enlarged compared to normal human sizes. This enlarged size results when there excess of cerebrospinal fluid (CSF) that collects in the brain due to an imbalance in its production and absorption.

This imbalance in turn, can be caused by many underlying problems like abnormal development of the central nervous system in the fetal period, brain tumors, meningitis, etc. One specific treatment option for hydrocephalus is the placement of a 'shunt system' in the head via surgery.

Answer: Coloboma

Coloboma is a birth defect which causes a hole or gap in any part of the eye like the iris, retina, cornea, etc. This is caused due to abnormal development of the eye in the embryological period and it occurs most commonly in the iris. This defect gives the iris and pupil a characteristic 'keyhole' appearance. Colobomas can be associated with blindness or normal vision. Surgery is an option for those who have coloboma.

Answer: Harlequin ichthyosis

Ichthyosis is the term used for a group of disorders that cause abnormalities in keratinization of skin. The most severe form of this is called harlequin ichthysosis. Most fetuses suffering from this rare condition do not survive after birth. This condition is characterized by profound thickness with lots of ridges and cracks.

This condition is associated with abnormalities of the eyes and mouth also. Currently there is no cure for this condition. There are cases of infants surviving with this condition with intensive care and treatment.

Answer: Clubfoot

This birth defect can occur unilaterally (on one foot) or bilaterally (on both feet). The cause of CTEV or clubfoot has not been properly established.

The four main components of CTEV are:

1. Cavus - This defect causes the affected foot to have an abnormally high arch.
2. Adduction - The affected foot is abnormally moved towards the midline of the body.
3. Varus - The affected foot is abnormally rotated inwards.
4. Equinus - This defect causes inability to flex the foot at the ankle joint.

This condition can be treated by operative methods like postero-medial soft tissue release where some tissue is removed from the inner side of the affected foot. Non-operative methods include usage of a special cast made for this disease, in particular one called a Ponseti cast.