Syndromes Flashcards
Stickler
Auto dominant Collagenopathy Mutations of COL genes Robin sequence Mac hypoplasia Ocular abnormalities Skeletal abnormalities hL
What syndrome has ovulocutaneous albinism, photophobia, silver gray hypopigmented hair, recurrent phonemic infections?
Chediak-Higashi syndrome
What is Hashimotos thyroiditis?
Autoimmune
Lymphocytic infiltration if thyroid resulting in apoptosis of thyroid cells
Hypothyroidism
Symptoms of hypothyroidism?
Goiter Fatigue Cold intolerance Muscle cramps Weight gain Dry skin
How is diagnosis of Hashimoto’s thyroiditis made?
Clinical presentation (hypothyroidism)
Elevated TSH
Decreased T4
Presence of anti-thyroid perixidase (TPO) and or anti-thyroglobulin (TG) autoantibodies.
US: hypo-echo genie and heterogenous pattern.
Syndrome with congenital fused vertebrae in the neck resulting in short neck, decreased rom neck, low hair line .
Klippel- Feil
Can also have CP, ht, Ug, eye, hearing problems
What does VACTERL association stand for?
Vertebral defects Anal atresias Cardiac TE fistula Renal Limb anomalies
Typically have at least 3 of these.
