Developmental Disorders Flashcards
Hutchinson’s Triad is a series of three things that is seen with congenital:
syphlis
What is the ‘triad’ in Hutchinson’s triad?
(DIM)
1) Deafness
2) Interstital keratosis (lots of keratin on feet/hands)
3) Malformed teeth (Hutchinson incisors and mulberry molars)
Boy comes into office with maculopapular rash, cracks/fissures around the mouth, and a flat philtrum. What does he likely have?
Congenital syphilis
Barrel-shaped teeth with incised edge notch are signs of:
Congenital syphilis
Thalidomide is a drug that was given to pregnant women for morning sickness but caused problems in babies. Why is it still used today?
Inhibits angiogenesis - so it’s a good anti-cancer drug
What is an example of a developmental sequence anomaly?
Potter Complex
*low amniotic fluid –> abnormally shaped hands/feet, big kidneys, and poorly developed lungs
What is a dysraphic anomaly?
When two opposing structures don’t close - like in cleft palate or spina bifida
Dysraphic anomaly and hypoplasia are seen in:
Pierre-Robin Sequence
DA - cleft palate, H- small mandible
What are two disorders associated with defects in structural proteins?
1) Marfan’s
2) Ehler-Danlos
Causes of congenital abnormalities in humans comes primarily from:
Unknown causes - 70%
Hereditary causes - 20%
Males and females are equally affected, offspring are 50% likely to get disease, 50% likely to be healthy. What is it?
Autosomal dominant
Females are affected twice as likely as males - this is:
X-linked dominant
Two examples of autosomal recessive diseases:
CF & Gaucher’s
One example of X-linked recessive:
Hemophilia
Defects in Type 1 collagen (80%) of the time is in a condition known as:
Ehler-Danlos syndrome
