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PEARLS
Question | Answer |
---|---|
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 |