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PEARL1

Pearls for genetics

ConditionPearl
Treacher Collins Diagonal hair tuft Lower lid coloboma
Williams Puffiness of lateral orbital region
Cornelia de Lange Synophrys (unibrow) Think Frieda
Prader Willi Almond shaped eyes
NF Lisch nodules neurofibromas axilary frecklling
Marfan: iris jiggle
Goldenhar Syndrome lipodermoid (subconjunctival tumor-benign)
Hurler Syndrome corneal clouding
Trichorhinophalangeal syndrome pear shaped bulbous nose
T13 Large bulky nose
Osteodysplatic primordial dwarfism high wide nasal bridge-wide all the way down to bulky tip
Crouzon Syndrome beak nose, prominent eyes
Wolf Hirshorn Greek warrior helmut
Van der woude lip pits
Osteogenesis imperfecta T3 brownish translucent teeth
holoprosencephaly single central incisor
Created by: sewallac
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