difficulties and is constantly eating despite measures by his parents to hide food out of reach.
What is the most probable dx?
a. Cushing’s syndrome
b. Congenital hypothyroidism
c. Prader Willi syndrome
d. Lawrence moon biedel syndrome
e. Down’s syndrome
answer: C
PDMW NEFT KDA
- Prader willi: over-eating, obese, hypotonia, hypogonadism, mental delay
- DiGeorge: Catch2 Congenital heart disease, Abnormal facies, Thymus hypoplasia, Cleft palate, Hypocalcemia, Hypoparathyroid.
- Moon-Biedl: Mentally retarded, Obese, Retinitis pigmentosa, Spastic paraplegia
- Williams: Aortic stenosis, over-friendly, peri-orbital fullness
- Noonan's: Short, wide spaced eyes, ptosis, webbed neck, pectus excavatum
- Edwards: Trisomy 18, life expectency days-months, CHD, short sternum
- Fragile X: Mentally retarded, Big forehead, long head, prominent ears, mitral valve prolapse
- Turners: 45X
- Klinefelters: 47XXY
- Downs: Trisomy 21
- Adrenal Congenital hypoplasia: Hyperkalemia, Hyponatremia, Ambiguous genitala
n.b. this is not an extensive representation but it provides enough clinchers for the exam, also Turners, Klinefelters and Down's clinical profiles are assumed obvious.
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