click below
click below
Normal Size Small Size show me how
Pearls2
Second set of pearls
| Condition | Pearl |
|---|---|
| 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) |