Dysmorphology and Teratogens Flashcards
Dysmorphology
medical specialty of evaluating patients with abnormal physical features
Diagnosis checklist
- birth/pregnancy history
- developmental/behavioral history
- medical history
- fam history
- thorough physical exam
- lab findings
- recurrent miscarriages/disabilities
major anomalies
birth defects that need medical/surgical intervention; cosmetically important
minor anomalies
no major surgery needed, cosmetically less important
- features that differ from family, race, or gen pop
22q11. 2 deletion syndrome
- 22q11.2 meaning
- anomalies
Q11.2 piece of 22 chromosome is missing
- palate anomaly: nasal voice and cleft palate
Birth defects/major anomalies
- definition
- list causes
- condition present at birth which requires medical, surgical, or cosmetic intervention
- chromosome abnormalities (10%)
- multifactorial (23%)
- prenatal teratogen exposure
- uterine
- twinning (higher risk of birth defect)
- unknown causes (43%)
malformation
- definition
- way to remember
- poor formation of tissues (primary defect)
- heart defects, most likely to have genetic component,
deformation
- definition
- way to remember
- abnormal mechanical forces causing structural abnormalities (secondary defect)
- clubbed feet, overlapping toes, flat head
disruption
- definition
- way to remember
- environmental disturbances causing disruption of growth
- cleft palate, no toes
dysplasia
- definition
- way to remember
- abnormal organization of cells into tissues
- caved chest, polycystic kidney disease, etc.
Syndrome
multiple anomalies pathogenically related due to a genetic factor
sequence
cascade from a single known anomaly or mechanical factor
field defect
derived from disturbance of a single developmental field
- often midline anomalies
association
non-random occurrence of multiple anomalies that cannot be explained by chance alone
- due to unknown factor but can be re-categorized if found
- pathogenically unrelated
Pierre robin ______?
- cause
- mnemonic
pierre robin sequence
- micrognathia (undersized jaw) –> glossoptosis (protrusion? of tongue) –> cleft palate
- Pie palate, jaw
Potter _____?
- cause
- mnemonic
potter sequence
- lack of fetal urine –> no amniotic fluid –> fetal compression –> pulmonary hypoplasia (not enough lung) –> death
- no pee in the potty
OEIS _____?
- abbrev. stands for?
OEIS field defect
- Omphalocele (large protusion outside the cavity of abdomen)
- Extrophy of bladder and rectum
- Imperforate anus
- Spinal defects
Holoprosencephaly Spectrum _____?
- characteristics
field defect
- structural anomaly in brain where there is failed/incomplete separation of forebrain
VACTERL ____?
- abbrev. stands for?
VACTERL association
- Vertabrate anomalies
- Anal atresia
- Cardiovascular anomalies
- Tracheoesophageal fistula
- Esophageal atresia
- Renal anomalies
- Limb defects
Teratogen factors
exposure in pregnancy to
- infection
- certain medications
- drugs
- heavy metals
- external agents
- maternal conditions
- procedures
Teratogen Characteristics
- increased frequency of abnormal effect from baseline
- dose response relationship (threshold)
- period of greatest sensitivity differs
Thalidomide exposure
- what is it
- what does it cause
- mnemonic
- terratogen
- ## birth defects
Fetal Alcohol Syndrome
- features
- mnemonic
- terratogen
- short palpebral fissures
- flat midface
- small nose
- low nasal bridge
acutane exposure
- terratogen
- malformations: heart defects, intellectual disability
