click below
click below
Normal Size Small Size show me how
Pearl3
| Condition | Pearl |
|---|---|
| Wiedemann-Rautenstrauch | Supra-Buttock fat |
| Diabetic Embryopathy: | preaxial polydactyly with extra big toe down medial border of foot |
| Dyssegmental dwarfism- Silverman Handmaker type | Prominences at juncture near knee |
| Diastrophic dysplasia | pretibial skin dimple associated with bowed/under developed knee |
| Milroy's Hereditary lymphedema | congenital lymphodema of lower extremeties |
| Turner Syndrome | Congenital pedal edema |
| Wakdenburg syndrome | heterochromia |
| Hypohiydrotic ectodermal dysplasia | periorbital hyperpigmentation |
| Chondrodysplasia punctata | occipital atrophic area |
| Setleis Syndrome | cutis aplasia in temple area |
| Mosaic ring 15 Chromosome | abnormal pigment distrubution |
| Tuberous sclerosis | Adenosebaceum: unique rash on malar area of face |
| Incontinentia pigmenti | linear wavy pigment distrubution |
| Pseudoxanthoma elasticum | yellowish macular lateral neck rash (gooseflesh), retinal angoid streaks |
| Ehlers-Danlos Syndrome | cutis hyperelastica |
| Joubert Syndrome | mixed pre and post axial polydactyly |
| Rett | unique handwringing movements |
| Angelmann | uncontrollable laughter |