General Pathology Lecture 1: Developmental Diseases

How many newborns a year in the US have birth defects?

120,000

Are most birth defects found in live births?

No (Most die in utero)

What are most birth defects attributed to?

Chromosomal abnormalities

What are birth defects present at birth?

Congenital

What are clinical malformations called?

Anomaly

What are multiple anomalies related to developmental disorder and chemical/physical injury called?

Syndrome

What is a compound or pathogen that can cause birth defects called?

Teratogens

What are the four teratogens that can cause errors in morphogenesis?

1. Drugs

2. Trauma

3. Infections

4. Diabetes

What is the critical time of organ development for a fetus?

1st Trimester

Which organ systems are the most important to monitor during organ development?

1. Heart

2. CNS

What is the skin fold of upper eyelid covering inner corner of eye that causes eyes to look smaller?

Epicanthal fold

What is the space between margins of eyelids that causes slanting?

Palpebral fissure

Which syndrome causes upslanting of the Palpebral fissure?

Down syndrome

Which syndrome causes downslanting of the Palpebral fissure?

Treacher Collins syndrome

Why should you look for facial scars in a patient?

Indication of previous surgery

Anomalies in which three organs can be associated with low-set ears?

1. Kidneys

2. GI Tract

3. Heart

What can cause fetal alcohol syndrome?

Maternal drinking during pregnancy

How does fetal alcohol syndrome affect the central nervous system?

Intellectual disability

How does fetal alcohol syndrome affect the heart?

Cardiac septal defects

What are the four facial deformities related to fetal alcohol syndrome?

1. Epicanthal folds

2. Smooth philtrum

3. Thin upper lip

4. Short palpebral fissure

Whichfive organs can be malfomed with diabetes?

1. Limbs

2. Heart

3. Brain

4. Spinal cord

5. Abdominal organs

What are the five congenital infections with similar malformations in the TORCH complex?

1. Toxoplasmosis

2. Other

3. Rubella

4. Cytomegalovirus

5. Herpes type 2

Where is the parasite that causes toxoplasmosis found?

Cat feces

What is the complete lack of organ formation called?

Agenesis

What is the reduced size of organ/structure called?

Hypoplasia

What is normal tissue in abnormal site called?

Choristoma

What is disorganized normal tissue in normal site called?

Hamartoma

Which teeth is typically affected by hypodontia?

Most distal tooth subtype (Lateral incisor, second premolar, third molar)

What is the persistance of embryologic tissue i the thyroid called?

Involution Failure

What is an organ development in abnormal site called?

Ectopia

What is the incomplete closure of spinal cord and/or vertebral column?

Spinal Bifida

What causes spina bifida?

Maternal folic acid deficiency

Which subtype of spina bifida is least severe and has tufts of hair in lower back?

Occulta

Which subtype of spina bifida has herniation of meninges through vertebral column?

Meningocele

Which subtype of spina bifida is most severe and has herniation of meninges + spinal cord through vertebral column?

Myelomeningocele

What is the most severe symptom of spina bifida?

Seizure

What is the prevention method of spina bifida?

Intake of folic acid during pregnancy