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Flashcards in Differential Diagnoses Deck (11):
1

Cherry red spot (finding in the macula of the eye)

TAY SACHS

Hurler's disease

MPS VII (Sly syndrome)

Farber's disease

GM1 gangliosidoses

Niemann Pick

Sandhoff disease

Shprintzen-Goldberg

Other lysosomal storage diseases

Leber's Congenital Amaurosis

Hallervorden Spatz disease

Krabbe disease

Metachromatic leukodystrophy

Central retinal artery occlusion

Quining/Dapsone toxicity (non-genetic exposures)

Poisoning; carbon monoxide, methanol (non-genetic exposures)

2

Lisch Nodules

NF1, Glaucoma, Watson Syndrome

3

CHRPE (Congenital Hypertrophy of the Retinal Pigment Epithelium)

Gardner Syndrome

4

Stellate Irides

Williams Syndrome, Beimond Syndrome

5

Blue Sclera

Osteogenesis Imperfecta, EDS, Marfan's, Incontinentia Pigmenti, Lowe Syndrome/Oculocerebrarenal dystrophy, Pseudoxanthoma Elasticum

6

Ear Creases

Beckwith-Wiedemann Syndrome, 

7

Craniosynostosis

Apert Syndrome, Crouzon Syndrome, Pfeiffer Syndrome

8

Hemihypertrophy but NOT macroglossia

NOT Beckwith-Wiedemann; still at risk for Wilms tumor and hepatoblastoma however

9

Hemihypertrophy with macroglossia

Beckwith Wiedemann

10

Hemihypertrophy

- Klippel trenaunay

- Neurofibromatosis

- Proteus

- Russell-Sliver

- Sotos

- Zimmerman-Laband Syndrome

- Congenitaol Lipomatous Overgrowth

11

Advanced bone age is common in 

Overgrowth/Endocrine disorders