Professional Documents
Culture Documents
Our Fourth Exam
Our Fourth Exam
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23. Achondroplasia:
i. Autosomal dominant disorder
ii. characterized by impaired maturation of cartilage in the developing growth
plate
iii. is a major cause of dwarfism
iv. majority of cases are caused by dominant mutations involving the gene for
fibroblast growth factor receptor 3
v. Achondroplasia affects all bones that are formed from cartilage
vi. normal head and trunk size, and disproportionately short but well-muscled arms
and legs
vii. The face usually has a large forehead, prominent supraorbital ridges, and deep-
set root of the nose
viii. Thanatophoric dysplasia is the most common lethal form of dwarfism,
ix. c/f-micromelic shortening of the limbs, frontal bossing, relative macrocephaly, a
small chest cavity, and a bellshaped abdomen
x. underdeveloped thoracic cavity
xi. growth plate show diminished proliferation of chondrocytes and disorganization
xii. gain-of function mutations in FGFR3 that differ from those in achondroplasia
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26. -Cryptorchidism: • Increased risk of testicular cancer, 5-10x– Orchiopexy before age 2 reduces
the risk.
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43. -Mucoepidermoid Carcinoma: “Facial nerve”.
44. -Plasma Cells: Hepatitis A.
45. -Carcinoids: commonest site “Appendix”.
46. -Peutz-Jengers polyps:”Pigment”.
47. -Hydronephrosis: Dilation of renal pelvis.
48. -Leiomyoma: Uterus.
49. -R. Syndrome triad: Urethritis, Conjunctivitis and Arthritis.
50. -Prostatic Carcinoma: Male 2nd death.