Peds Flashcards
(16 cards)
What characteristics does mccune Albright syndrome have?
Fibrous dysplasia, precocious puberty, cafe au lait spots
What is included in nager syndrome?
Defects in development of 1 and 2 branchial arches- malar/mandibular hypoplasia, cleft palate, ear development, eye anomalies, limb anomalies like radial deficiency and hypoplasyic thumb
Holt oram syndrome
Radial deficiency, hypoplastic thumb, heart defects like VSD
Carpenter syndrome
Pre axial polydactyly
Muenke syndrome
Limb abnormalities- thimble like middle phalanges, carpal fusion
What role does progesterone have in breast development?
Stimulates growth of glandular tissue
What role does estrogen have in breast development?
Responsible for growth/development of breast ducts
What is kasabach Merritt syndrome and how is it treated?
Consumptive coagulopathy with kaposiform hemangioendotheliomas or tufted angiomas
First line is steroids and vincristine or sirolimus
Transfusion not indicated unless actively bleeding
What does charge syndrome include
Coloboma, heart defects, atresia choanae, retardation of growth, GU defects, ear anomalies
CHD7 gene defect
Patients with Poland syndrome have increased risk of what type of cancer?
Leukemia/lymphoma
What percent risk that a child would have CL/P if one sibling has it?
4%
What percent risk would child have for CL/P if two siblings have it?
9%
What risk for child to have CL/P if one parent and one sibling have it?
17%
What risk would child have for CL/P if one parent has van der woude syndrome?
50%
What characteristics would you see in a patient with COL2A1 gene mutation
Pierre robin sequence, glossoptosis, micrognathia, upper airway obstruction
MC with stickler syndrome (col2a1 mutation)
Also get hearing loss, ocular problems
Defects in type 2 and 11 collagen
What are the side effects of propranolol treatment in infantile hemangiomas
Bradycardia, hypotension, hypoglycemia, sleep disorders, hyperkalemia, worsening respiratory symptoms
Non selective beta blocker
