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11 Cards in this Set
- Front
- Back
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Sequence |
Cascade of defects arising single known or presumed structural defect or mechanical Factor |
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Pierre Tobin Sequence |
Jaw constraint, -> Micrognathia (Small lower Jaw) -> Glossoptosis (Downward Displacement or Retraction of the tongue) -> U shaped Cleft Palate |
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Potter Sequence |
Abnormal renal development -> Oligohydramnios (Leads to lack of space) -> Flattened Face -> Contracted Joints -> Limb deformities -> Pulmonary Hypoplasia 100% Lethal |
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Syndrome |
Multiple defects that occur together in a predictable way Major or Minor Multiple systems, single cause Doesn't include Sequence or polytopic field |
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Down Syndrome |
Trisomy 21 - 3x chromosome 21 - Short neck, w/ excess skin @ back - Flattened Face and nose - Small Head, ears and mouth - Upwards Slanting eyes - Wide short hands with short fingers - A single deep crease across the middle of the palm (This is a common variation) - Deep grove between first and second toes - Intellectual Deficiency |
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Fetal Alcohol Syndrome |
Facial Features - Small eye openings - Smooth Philtrum - Thin upper lip Neurological Features - Leading cause of Intellectual disability Growth Defiency - Smaller |
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Polytopic Field Defect |
Multiple Anomolies in the same developmental region Due to a disturbance of a single developmental field Often confused with sequence, need to know cause |
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DiGeorge Syndrome |
Polytopic field Defect
Deletion of chromosome 22q11.2 Affects 3rd and 4th Pharyngeal Arch derivative - All muscles of lower neck and face - Truncus arteriosus - Single b.v. instead of pulmonary artery and aorta - Hypoplasia of parathyroid and thyroid gland - Facial Dysmorphism - Cleft Palate |
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Holoprospencephaly Spectrum |
Abnormal development of forebrain - responsible for development of forehead and face (Nose and Up) - Below the nose induced by Pharyngeal Arches Affects development of face - Elongated Forehead - Cone Shaped - Nose on Forehead - 1 eye |
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Association |
- Non Random - Pathogenically unrelated - Multiple defects Doesn't include those known to be sequences, syndromes or polytopic field defects Needs to be present in at least 2 Often reclassified as syndrome once cause is identifiable |
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VACTERL assocition |
Vertebral Defects Anal Atresia Cardiac Defects Tracheo-oesophageal fistula - opening btwn oesophagus and trachea Renal defects Limb defects |
