CBD Flashcards
CHD of Noonan syndrome
Pulmonary stenosis
Male phenotype of turner syndrome
Noonan syndrome
Earliest sign of congenital hypothyroidism
Prolonged jaundice
First clinical manifestation of CH
Growth delay
MC cause of hypothyroidism
Thyroid dysgenisis
MCC of thyroid disease in children
Thyroiditis
Swimming pool urine
Hawkinsunuria
Sweaty feet, acrid
Isovaleric acidemia
Maple syrup
MSUD
Boiled cabbage, rancid butter
Tyrosinemia
Musty or mousey
Phenylketonuria
Tomcat urine
Multiple carboxylase deficiency
Glucocerebrosidase deficiency wth hepatosplenomegaly
Gauchers disease
Deficiency in copper dependent enzymes
X linked recessive
Menke’s disease
Kinky hair disease
Positive urine sulfatide test
Arylsulfatase A deficiency
Metalochromatic leukodystrophy
HGPRT deficiency
Lesch Nyhan syndrome
Glucose 6 phosphatase deficiency
Hypoglycemia and lactic acidosis
Von gierke’s disease
External ophthalmoplegia or frozen eyeball with retinitis pigmentosa
Kearns Sayre Syndrome
Most frequent mitochondrial disease in prenatal
Leigh encephalopaty
MC vasculitis in children
This affects small vessels
Henoch Schonlein Purpura
IGA and C3 deposition
Crash and Burn
Kawasaki disease
MC heart disease in Kawasaki
Coronary artery aneurysm
Vascukitis assoc with hepb infection
Panarteritis nodosa
Ataxia, nystagmus, kyphoscoliosid
Chromosome 9
Friedrich ataxia