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*Syndromes
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Microcephaly, prominent occiput, micrograthia, closed fists w/ overlaping digits, rocker bottom feet
VSD
Die in 1st yr
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Edwards Syndrome (Trisomy 18)
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Terms in this set (92)
Microcephaly, prominent occiput, micrograthia, closed fists w/ overlaping digits, rocker bottom feet
VSD
Die in 1st yr
Edwards Syndrome (Trisomy 18)
Male, asymptomatic until 6-9mo -> recurrent pyogenic (strep pneumo, H. flu) pneumonia & otitis media
DX:
TX:
Bruton's Agammaglobulinemia (X-linked agammaglobulinemia)
Defect: Tyrosine kinase in B cells
DX: dec all Ig & no B cells(CD19), normal T cells(CD3)
TX: IVIG
Cleft lip, polydactyly, ocular hypotelorism, bulbous nose, low set malformed ears, small skull, cerebral malformation, cardiac malformations
Patau's Syndrome (Trisomy 13)
Cry like cat
hypotonia, short, moonlike face, high arched palat, wide flat nasal bridge, retard, microcephaly
5p deletion
Cri-du-chat syndrome
Aortic root dilation -> aortic regurg, aneurysisms, dissection
Joint hypermobility
skin hyperelasticity,
Arachnodactylyl (long fingers)
Pectus excavatum (breastbone)
Skoliosis/kyphosis
Long face, palate with high arch, crowded teeth
Ectopia lentis (lens dislocation upwards)
Cause:
Marfan
AD - Fibrillin-1 gene -> weak connective tissue
