Differential Diagnoses

Question 1

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

Answer 1

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)

Question 2

Lisch Nodules

Answer 2

NF1, Glaucoma, Watson Syndrome

Question 3

CHRPE (Congenital Hypertrophy of the Retinal Pigment Epithelium)

Answer 3

Gardner Syndrome

Question 4

Stellate Irides

Answer 4

Williams Syndrome, Beimond Syndrome

Question 5

Blue Sclera

Answer 5

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

Question 6

Ear Creases

Answer 6

Beckwith-Wiedemann Syndrome,

Question 7

Craniosynostosis

Answer 7

Apert Syndrome, Crouzon Syndrome, Pfeiffer Syndrome

Question 8

Hemihypertrophy but NOT macroglossia

Answer 8

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

Question 9

Hemihypertrophy with macroglossia

Answer 9

Beckwith Wiedemann

Question 10

Hemihypertrophy

Answer 10

• Klippel trenaunay
• Neurofibromatosis
• Proteus
• Russell-Sliver
• Sotos
• Zimmerman-Laband Syndrome
• Congenitaol Lipomatous Overgrowth

Question 11

Advanced bone age is common in

Answer 11

Overgrowth/Endocrine disorders