Dysmorphology Flashcards

1
Q

Down syndrome - extremities

A

Short broad hands
Incurved fifth finger with hypoplastic mid phalanx
Transverse palmer crease
Space between the first and the second toes
Hyperflexibility of joints

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2
Q

Down syndrome - Head and Neck

A
Upslanting palpebral fissures
Epicabthic folds
Flat facial profile/ nasal bridge
Folded or dysplastic ears
Low set small ears
Brachycephaly
Open mouth
Protruding tongue
Furrowed tongue
Short neck
Excessive skin at nape of the neck
Narrow palate
Abnormal teeth
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3
Q

Prune belly syndrome

A
Partial or complete lack of abdominal wall muscles
Cryptorchidism
Urinary tract abnormality 
Frequent UTI
Postejaculatory discomfort
Ventricular septal defect
Malrotation of the gut
Club foot
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