Infancy And Childhood Flashcards
Represent primary errors of morphogenesis
Intrinsically abnormal developmental process
Malformation
Extrinsic disturbance in morphogenesis
Disruption
Extrinsic disturbance of development
Due to abnormal biomechanical forces
Deformation
Most chromosomal disorder arises at what stage
Gametogensis
What plays a critical role in the morphogenesis
Hedgehog signaling pathway
Causes extremely high incidence of limb malformation
Thalidomide
This stage is extremely susceptible to teratogens
3rd to 9th week
This can cause holoprosencephaly and cyclopia
Cyclopamine
Disrupts expression of the homebox proteins
Valporic acis
Cleft lip and palate may due to deregulation of what signaling pathway
TGFB
Common cause of RDS in newborn
Hyaline membrane disease
Seen in RDS x ray film
Ground glass appearance
Plays a role in pulmonary innate hose defense
SP- A and D
Involved in the reduction of surface tension
SP- B and C
Clinical features of Cystic Fibrosis
Chronic lung disease Pancreatic insufficiency Steatorrhea Malnutrition Hepatic cirrhosis Intestinal obstruction Male infertility
What is the primary defect of cystic fibrosis
CFTR
Cytstic fibrosis type 1
Defective protein synthesis
Type 2 cystic fibrosis
Abnormal protein folding, processing and trafficking
Type 3 cystic fibrosis
Defective regulation
type 4 cystic fibrosis
Decreased conductance
Type 5 cystic fibrosis
Reduced abundance
Type 6 cystic fibrosis
Altered function in regulation of ion channel
Most common tumor of infancy
Hemangioma
What do you call flat larger lesions in hemangioma
Port wine stains
This is the most frequently diagnosed tumor in infancy
Neuroblastoma
Important diagnostic feature in neuroblastoma
VMA and HVA
What syndrome is characterized by gonadal dysgenesis in the form of male pseudohermaphroditism
Denynsh- drash
Characterized by organomegaly, macroglossia, hemihypertrophy, omphalocele and adrenal cytomegaly
Beckwith wiedemann syndrome
Causes of prematurity ans fetal growth restriction
PPROM
Intrauterine infection
Structural abnormalities
Multiple Gestation
Causes of FETAL GROWTH restriction
Fetal
Placental
Maternal