Trisomy 13
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extra copy of chromosome 13
birth defecits. congenital heart defects, brain anomalies,
spina bifida, severe eye defects, cleft lip and palate,
polydactyly. many have midline facial deformities and cleft
lip -> indicates holoprosencephaly (failure of brain to divide
into 2 hemispheres.
Many die in first year. Others have profound ID and feeding
difficulties which require nasogastric feeding
Crouzon Syndrome
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, Autosomal dominant
craniosynostosis (especially coronal), hypoplasia of
midface, maxilla, or both, hypertelorism, facial assymetry,
high arched palate, shllow oropharynx, long and thick soft
palate, brachycephaly
conductive HL sometimes, artic disorders, hyponasality, and
language disorders
Down Syndrome
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extra chromosome 21
hypotonia, small ears, nose, and chin, midface dysplasia,
narrow high arched palate, macroglossia,
conductive loss often, sometimes sensorineural, language
delays, especially deficient syntax and morphological
features, relatively better vocab
Prader-Willi Syndrome
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Give this one a try later!
extra copy of chromosome 13
birth defecits. congenital heart defects, brain anomalies,
spina bifida, severe eye defects, cleft lip and palate,
polydactyly. many have midline facial deformities and cleft
lip -> indicates holoprosencephaly (failure of brain to divide
into 2 hemispheres.
Many die in first year. Others have profound ID and feeding
difficulties which require nasogastric feeding
Crouzon Syndrome
Give this one a try later!
, Autosomal dominant
craniosynostosis (especially coronal), hypoplasia of
midface, maxilla, or both, hypertelorism, facial assymetry,
high arched palate, shllow oropharynx, long and thick soft
palate, brachycephaly
conductive HL sometimes, artic disorders, hyponasality, and
language disorders
Down Syndrome
Give this one a try later!
extra chromosome 21
hypotonia, small ears, nose, and chin, midface dysplasia,
narrow high arched palate, macroglossia,
conductive loss often, sometimes sensorineural, language
delays, especially deficient syntax and morphological
features, relatively better vocab
Prader-Willi Syndrome
Give this one a try later!
