Rubins developmental and genetic dzs

Question 1

Growth retardation
dysfunction of the CNS
Small head and thin upper lip
short memory spans/impulsiveness/emotional instability

Answer 1

Fetal Alcohol syndrome

Question 2

Brittle bones
group of inherited disorders expressed principally as fragility of bone
Affect in synthesis of Type I collagen
Blue sclera
high incidence of hearing loss

Answer 2

Osteogenesis Imperfecta

Question 3

Keratin gene mutations

Answer 3

Epidermolytic hyperkeratosis

Question 4

Cerebral hemispheres either missing or reduced to small masses
anomaly of neural tube closure that results from an injury to fetus btwn 23rd and 26th day of gestation

Answer 4

Anencephaly

Question 5

Disfiguring neurofibromas
areas of dark pigmentation of the skin
pigmented lesions of the iris
most common autosomal dominant disorder
Part of GTPase-activating proteins
Major comlication--appearance of neurofibrosarcoma

Answer 5

Neurofibromatosis Type I

Question 6

Missense mutations in the gene coding for Fibrillin-1

autosomal dominant

Answer 6

Marfan syndrome

Question 7

Collagen gene mutations

Answer 7

Ehlers-danlos

Question 8

Lysosomal storage dzs
Gangliside–deposited in neurons of the CNS due to failure of lysosomal degradation and accumulation of unmetabolized subsrate

Progressive weakness
metal deterioration
loss of vision
decrease in hexosaminidase A

Answer 8

Tay-Sachs dz

Question 9

Chronic pul dz
deficient exocrine pancreatic function
accumulation of Cl- in sweat

Answer 9

Cystic fibrosis

Question 10

Autosomal recessive disorder characterized by progressive mental deterioration in 1st few years–high levels of circulation phenylalanine
deficiency in phenylalanine hydroxylase

Fair skin
blonde hair
blue eyes
“mousy” odor

Answer 10

PKU–treatment-restriction of phenylalanine

Question 11

Group of rare autosomal dominant, inherited disorders of CT
Hyperelasticity and fragility of skin
joint hyper mobility
bleeding diathesis
Lysyl hydroxylase deficiency

Answer 11

Ehlers-Danlos syndrome

Question 12

Accumulation of glucosylceramide–primarily in lysosomes of macrophages
Glucocerebrosidase deficiency–B-glucosidase

Answer 12

Gaucher Dz

Question 13

Deficiency of surfactant
collapse of alveoli–perfusion/but no ventilation
fibrin-rich fluid leak into alveoli from injured vascular bed–hylaline membrane dz

Related to necrotizing enterocolitis

Answer 13

Respiratory distress syndrome

Question 14

Hemolytic anemia of neonate

antibody mediated–transplacental passage of maternal antibodies to antigens expressed on fetal RBCs—IgG

Answer 14

Erythroblastosis fetalis

Question 15

Most common cause of inherited MR–caused by expansion of a CGG trinucleotide repeat in a noncoding region immediately adjacent to the FMR1 gene on X chromosome

Answer 15

Fragile X syndrome

Question 16

Autosomal dominant disorder caused by mutations of the gene encoding the LDL receptor–severe atherosclerosis with early onset

Answer 16

Familial hypercholesterolemia

Question 17

Treponema pallidum-transfered to fetus by a mother who acquired infection during pregnancy

Maculopapular rash
peristitis and outward curving of anterior tibia
Flat raised plaques around anus/female genitalia

Answer 17

Syphilis–mother to baby

Question 18

Absence of an organ coupled with persistence of the organ anlage or a rudiment

Answer 18

Aplasia

Question 19

Defects caused by the failure of apprised strutters to fuse

Answer 19

Dysrapitic anomalies

Question 20

Defects caused by the incomplete formation of a lumen

Answer 20

Atresia

Question 21

Microscopic aggregates of normal tissue in aberrant locations– represented by rests of pancreatic tissue in the wall of the GI tract

Answer 21

Choristoma

Question 22

Represent focal, benign overgrowths of one or more of the mature cellular elements of the normal tissue

Answer 22

Hamartomas

Question 23

The most frequently encountered tumor in childhood

Answer 23

Hemangiomas

Question 24

used to determine appropriate development of the fetal lungs

Answer 24

Lecithin

Question 25

Subperiosteal hemorrhage confined to a single cranial bone and becomes apparent within a few hours after birth–most resolve without complication

Answer 25

Cephalohematoma

Question 26

Bilirubin encephalopathy
neurological condition associated with severe jaundice and characterized by bile staining of the brain

Unconjugated hyperbilirubinemia related to erythroblastosis fetalis

Answer 26

Kernicterus