MSK

Question 1

Congenital Hypothyroidism

Answer 1

-Presents soon after birth with hypotonia, poor feeding, jaundice, macroglossia, constipation, and umbilical hernia.

Question 2

Phenylketonuria

Answer 2

• pheynlalanine hydroxylase deff-
• mousy body odor
• mental retardation,
• fair skin coloring

Question 3

Infant botulism

Answer 3

• infants 2-6 months old fed honey

- poor suckling, and paralysis.

Question 4

Hirschsprung Disease

Answer 4

• Abnormal migration of neural crest cells into the rectosigmoid colon leading to absence of ganglion cells in the affected wall.
• Distension, billious emesis, and failure to pass meconium

Question 5

1 month old child, appears floppy, not feeding well. Mother is 43 yo multipara. Recently emigrated from Eastern Europe. PE shows mild jaundice, enlarged tongue, general hypotonia, and umbilical hernia

Answer 5

• Congenital hypothyroidism
• T4 is essential for normal brain development and myelination during early life. Undiagnosed leads to mental retardation

Question 6

Marfans Syndrome

• Genetic defect
• Common Presentation

Answer 6

• Fibrillin 1 gene- forms microfibrils that form the sheath around elastin fibers.
• long thin extremities,arachnodactyly,
• dislocation of lens(ectopia lentis)
• Aortic aneurysm, aortic dissection, MVP

Question 7

34 yo died of internal hemorrhage, inherited defect of elastin associated glycoprotein that is abundant in zonular fibers of lens, periosteum and the aortic media. What is the patient most likely suffering from

Answer 7

• Marfans Syndrome

Question 8

Decreased osteoclastic bone resporption and increased bone density and thickness

Answer 8

• Osteopetrosis

- osteoblasts are working good in these people

Question 9

Ankylosing Spondylitis

Answer 9

• seronegative inflammatory arthritis
• fusion of spine, sacroiliac joints
• arthritis of the shoulders hips costochondral joints.
• associated with HLA-B27 positivity

Question 10

Osteogenesis imperfecta- clinical manifestations

Answer 10

• broken bones
• type 1 collagen defective genes
• blue sclera
• dental abnormalities (dentinogenesis imperfecta)
• and hearing loss
• reduced bone mass

Question 11

Genetic factor of Achondroplasia

Answer 11

• FGF3 receptor gene
• dwarfism
• abnormal chondrocyte proliferation at the growth plates of the long bones.
• short-limbed dwarfism