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21 Cards in this Set
- Front
- Back
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Pleitropy
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A cond'n in which a single or a pair of genes produces multiple defects
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Mosaicism
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An individual or tissue w/ 2 or more cell lines differing in genotype, derived from a single zygotype
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Aneuploidy
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Abnormal change in # of chromosomes causing a dz
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Deletion
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Abnormal change in chromosomal structure or loss of a part
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Chromosomal Abnormalities result from-----
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Aneuploidy, Deletion or Translocation
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Thalidomide?
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A drug in 1960s led to severe limb abnormalities in newborns=> start of fetal medicine
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New Technologies in fetal med?
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US, amniocentesis, chorionic villus sampling, fetal blood sampling, DNA analysis, fetoscopy
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Scaphocephaly?
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Boat head-sagital suture closes early
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Trigonocephaly?
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Premature closure of metopic/frontal suture
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Plagiocephaly?
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Premature closure of lambdoid suture; not letting the head to grow upward
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Brachycephaly?
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Premature closure of coronal suture causing head to be flat at forehead
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Microcephaly?
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Small head circumference & growing slowly; >2 STD below mean head size for age; often results from genetic abnormalities (trisomy 21, prader willi synd) etc; fontanelle close early
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TORCH?
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Toxoplasmosis, Other transplacental infections (HIV, Hep B), Rubella, CMV, and Herpes simplex; these cond'ns attack newborn
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Hydranencephaly?
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large head w/o cerebral hemispheres; cerebellum & brain stem are normal w/ intact basal ganglia
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Trisomy 21/Down synd
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Most common autosomal chromosomal abnormality in humans
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Clinodactly?
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2 phalanges of pinky instead of 3
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The m/common seen major craniofacial anomaly in children----
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Cleft lip & palate; occurs in 2nd month of pregnancy
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Arnold Chiari Malformation/ Malformation of the hind brain
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A condition in which the inferior poles of the cerebellar hemispheres and the medulla protrude through the foramen magnum into the spinal canal.
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Dandy Walker Synd
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Dandy-Walker malformation is progressive cystic enlargement of the 4th ventricle.
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Craniosynostosis/Oxycephaly
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Premature fusion of one or more skull sutures causing unusual head shape & may compress brain; cause is unknown; Dx by CT or skull XR; Tx-Sx
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Meningocele/Spina Bifida
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CSF sac is covered by meninges & skin, and contains no neural tissue; Dx by Acetylcholinesterase level, 4 marker screen (AFP, hCG, estriol, inhibin-A), amniocentesis, myelography, PE; Tx by Sx
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