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PEARLS

QuestionAnswer
Shawl Scrotum Aarskog
Uncontrollable inappropriate laughter Angelman
Mitten hand/foot Apert
palm pits; jaw keratocysts Basal Cell Nevus
Deep creases and pits behind ear Beckwith-Wiedemann
Post-auricular and sub-auricular raised hemangiomas Branchio-oculo-facial
hypoplastic/absent clavicles Cleidocranial dysostosis
proximal puffiness of fingers w/ distal tapering Coffin-Lowry
synophrys Cornelia de Lange
cauliflower ear, hitchhiker thumb diastrophic dysplasia
short 5th finger w/ hypoplastic nail Fetal alcohol
macroorchidism Fragile X
lipodermoid Goldenhar
extreme mid-back kyphosis Hunter
corneal clouding Hurler
periorbital hyperpigmentation, conical teeth Hypohidrotic ectodermal dysplasia
linear, wavy pigment distribution Incontinentia pigmenti
mixed pre- and post-axial polydactyly Joubert
short neck Klippel-Feil
lens dislocation; arachnodactyly Marfan
postaxial AND preaxial polydactyly of hands and feet Majewski short-rib polydactyly
congenital facial palsy Moebius
hypoplastic/absent patellae Nail-patella
Lisch nodules Neurofibromatosis type 1
tongue hamartomas Oral-facial-digital syndrome
dentinogenesis imperfecta Osteogenesis Imperfecta
white forelock Piebaldness
small/absent pectoralis major muscle Poland sequence
almond-shaped eyes, ravenous appetite Prader-Willi
yellowish macular lateral neck rash Pseudoxanthoma elasticum
unique hand-wringing movements Rett
broad thumbs Rubenstein-Taybi
self-abusive behavior Smith-Magenis
diagonal hair tuft; lower lid coloboma Treacher-Collins
lip pits van der Woude
heterochromia; white forelock Waardenburg
puffiness of lateral orbital region Williams
Greek warrior helmet Wolf-Hirschorn
excess lateral anterior neck fat Zellweger
Created by: agmcki
Popular Genetics sets

 

 



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