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Syndromes

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sxkerr's version from 2016-04-25 13:34

Section

Question Answer
Microcephalic, small eyesPatau syndrome (trisomy 13)
Cleft lip/palatePatau syndrome (trisomy 13)
PolydactylyPatau syndrome (trisomy 13)
Scalp lesionsPatau syndrome (trisomy 13)
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Question Answer
MicrognathiaEdward's syndrome (trisomy 18)
Low-set earsEdward's syndrome (trisomy 18)
Rocker bottom feetEdward's syndrome (trisomy 18)
Overlapping of fingersEdward's syndrome (trisomy 18)
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Question Answer
MacrocephalyFragile X
Long faceFragile X
Large earsFragile X
Macro-orchidismFragile X
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Question Answer
Webbed neckNoonan syndrome
Pectus excavatumNoonan syndrome
Pulmonary stenosisNoonan syndrome
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Question Answer
MicrognathiaPierre-Robin syndrome
Posterior displacement of the tongue (may result in upper airway obstruction)Pierre-Robin syndrome*
Cleft palatePierre-Robin syndrome
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Question Answer
HypotoniaPrader-Willi syndrome
HypogonadismPrader-Willi syndrome
ObesityPrader-Willi syndrome
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Question Answer
Short statureWilliam's syndrome/Noonan syndrome
Learning difficultiesWilliam's syndrome/Fragile X
Friendly, extrovert personalityWilliam's syndrome
Transient neonatal hypercalcaemiaWilliam's syndrome
Supravalvular aortic stenosisWilliam's syndrome
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