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Pearls2

Second set of pearls

ConditionPearl
Majenski Short Rib polydactyly syndrome postaxial and preaxial polydactyly of hands and feet. Cross polydactyly
Oral-facial-digital syndrome Tongue hamartomas
Beckwith-Weidemann deep creases and pits behind the ear
Diastophic dysplasia cauliflower ear
Zellweger syndrome excess lateral anterior neck fat
Klippel-Feil sequence Short neck
Branchio-oculo-facial syndrome post-auricular and sub auricular raised hemangiomas
Rubenstein-Taybi Syndrome Big big toe. Broad thumbs +/- deviation
Diastophic dysplasia hitchhiker thumb
Apert syndrome mitten hand/foot syndactyly with fusion usually cutaneous
Coffin Lowry proximal puffiness of fingers with distal tapering
Nail-patella syndrome hypoplastic to absent patellae
T18 trigger finger Short sternum
Basal cell nevus syndrome palm pits
Amniotic band syndrome constiction rings on legs
Thrombocytopenia absent radius with thumbs present
48,XXYY prominent elbows
Poland sequence small/absent pectoralis major muscle
Cleidocranial dysostosis hypoplastic/absent clavicle
Hunter Syndrome extreme mid back kyphosis
Aarskog Syndrome Shawl scrotum
Fragile X Syndrome Macroorchidism (large testes)
Created by: sewallac
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