Groups of anomalies
21 important questions on Groups of anomalies
What kind of defect pattern is a sequence?
Single known or presumed structural defect or mechanical factor leading to a cascade of secondary anomalies (domino effect)
Explain the Pierre Robin sequence.
Jaw constraint → micrognathia (small lower jaw) → glossoptosis (tongue too posteriorly sitting) → U–shaped cleft palate
Can the pierre robin sequence be corrected?
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Can the potter sequence be treated?
What kind of defect pattern is a syndrome?
How are the defects in a syndrome related?
What defect patterns does a syndrome not fall under?
What are the symptoms of down syndrome (trisomy 21)?
- Short neck, with excess skin at the back of the neck
- Flattened facial profile and nose
- Small head, ears, and mouth
- Upward slanting eyes
- Wide, short hands with short fingers
- A single, deep, crease across the palm of the hand (single palmar crease, also a normal variation)
- A deep groove between the first and second toes
- Intellectual deficiencies
What is the cause of fetal alcohol syndrome?
What are the symptoms of fetal alcohol syndrome?
1. Facial features (small eye openings, smooth philtrum, thin upper lip)
- higher teratogen/alcohol exposure = more pronounced facial features
2. Neurological features/intellectual disability
3. Growth deficiency
What kind of defect pattern is a polytopic field defect?
What is a single developmental field?
How can a sequence and a polytopic field defect be differentiated?
What is DiGeorge syndrome?
What are the defects characterised in DiGeorge syndrome?
Thymic and parathyroid hypoplasia
Facial dysmorphism
Cleft palate
What is Holoprosencephaly spectrum?
Failure/abnormal development of forebrain, which affects development of the face
What kind of pattern of defect is association?
Non-random combination of anomalies which occur together more frequently than by chance alone, but the origin is (still) unknown
How can association be classified as a syndrome instead?
What are the other patterns of defects that an association does not fall under the same category of?
How many cases of individuals with that pattern of defect needs to be identified for it to be classified as an association?
What are the defects that follow VACTERL association?
Vertebral defects
Anal atresia
Cardiac defects
Tracheo-esophageal fistula
Renal defects
Limb defects
All defects arise from the mesoderm.
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