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Embryology (Langman's) > Chapter 16 > Flashcards

Chapter 16 Flashcards

1
Q

a cancer of the kidneys that usually affects children by 5 years of age but may also occur in the fetus.

A

Wilms Tumor

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2
Q

Wilms tumor is due to mutations in the

A

WT1 gene on 11p13

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3
Q

characterized by Wilms tumor, aniridia, gonadoblastomas [tumors of the go- nads], and mental retardation [intellectual dis- ability].

A

WAGR syndrome

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4
Q

constellation of defects is due to a microdeletion in chromosome 11 that includes both the PAX6 [aniridia] and WT1 genes that are only 700 kb apart.

A

WAGR Syndrome

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5
Q

consists of renal failure, ambiguous genitalia, and Wilms tumor

A

Denys-Drash syndrome

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6
Q

are a spectrum of severe malformations that represent the primary diseases requiring dialysis and transplantation in the first years of life.

A

Renal dysplasias and agenesis

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7
Q

An abnormality in which numerous ducts are surrounded by undifferentiated cells. Nephrons fail to develop, and the ureteric bud fails to branch, so that the collecting ducts never form.

A

Multicystic dysplastic kidney

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8
Q

may also arise if the interaction between the metanephric mesoderm and the ureteric bud fails to occur.

A

Renal agenesis

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9
Q

produced by the metanephric mesoderm that produces branching and growth of the ureteric bud.

A

GDNF

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10
Q

True or False

mutations in genes that regulate GDNF expression of signaling may result in renal agenesis.

A

True

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11
Q

Genes responsible for Townes-Brock Syndrome

A

SALL1 ‘

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12
Q

Gene thatcauses renal coloboma syndrome

A

PAX2

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13
Q

Mutations in what gene results in branchiootorenal syndrome.

A

EYA1

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14
Q

characterized by anuria, oligohydramnios [decreased volume of amniotic fluid, and hypoplastic lungs secondary to the oligohydramnios.

A

Potter sequence

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15
Q

A flattened face

A

Potter facies

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16
Q

numerous cysts form. It may be inherited as an autosomal recessive or autosomal dominant disorder or may be caused by other factors.

A

Congenital polycystic kidney disease

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17
Q

a progressive disorder in which cysts form from collecting ducts. The kidneys become very large, and renal failure occurs in infancy or childhood.

A

Autosomal recessive polycystic kidney disease

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18
Q

cysts form from all segments of the nephron and usually do not cause renal failure until adulthood.

A

Autosomal dominant polycystic kidney disease
More common

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19
Q

disease linked to mutations in genes that encode proteins localized in cilia and that are important for ciliary function

A

Ciliopathies

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20
Q

characterized by renal cysts, obesity, intellectual disability, and limb defects

A

Bardet-Biedl syndrome

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21
Q

characterized by renal cysts, hydrocephalus, microph- thalmia, cleft palate, absence of the olfactory tract, and polydactyly.

A

Meckel-gruber syndrome

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22
Q

Kidneys remaining in the pelvis close to the common iliac artery

A

Pelvic kidney

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23
Q

kidneys are pushed so close together during their passage through the arterial fork, that the lower poles fuse, forming a

A

Horseshoe kidney

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24
Q

they derive from the persistence of embryonic vessels that formed during ascent of the kidneys. These arteries usually arise from the aorta and enter the superior or inferior poles of the kidneys

A

Accessory renal arteries

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25
Q

the lumen of the intraembryonic portion of the allantois persists

A

Urachal fistula

26
Q

If only a local area of the allantois persists, secretory activity of its lining resulting in a cystic dilation,

A

Urachal cyst

27
Q

When the lumen in the upper part persists, it forms a

A

Urachal sinus

28
Q

a ventral body wall defect in which the bladder mucosa is exposed. Epispadias is a constant feature

A

Exstrophy of the bladder

29
Q

probably due to failure of the lateral body wall folds to close in the midline in the pelvic region

A

Exstrophy of the bladder

30
Q

is a more severe ventral body wall defect in which progression and closure of the lateral body wall folds are disrupted to a greater degree than is observed in bladder exstrophy

A

Exstrophy of the cloaca

31
Q

result from lack of fusion of the paramesonephric ducts in a local area orthroughout their normal line of fusion.

A

Duplications of the uterus

32
Q

uterus is entirely double

A

Uterus didelphys

33
Q

Uterus is only slightly indented in the middle

A

Uterus arcuatus

34
Q

uterus has two horns entering a common vagina

A

Uterus bicornis

35
Q

In patients with complete or partial atresia of one of the paramesonephric ducts, the rudimentary part lies as an appendage to the well-developed side. Because its lumen usually does not communicate with the vagina, complications are common

A

Uterus bicornis unicollus with 1 rudimentary horn

36
Q

If the atresia involves both sides

A

Cervical atresia

37
Q

If the sinovaginal bulbs fail to fuse or do not develop at all

A

Double vagina or vaginal atresia

38
Q

a small vaginal pouch originating from the paramesonephric ducts usually surround the opening of the cervix

A

Atresia of the vagina

39
Q

fusion of the urethral folds is incomplete, and abnormal openings of the urethra occur along the ventral aspect of the penis, usually near the glans, along the shaft, or near the base of the penis

A

Hypospadias

40
Q

the urethral meatus is found on the dorsum of the penis

A

Epispadias

41
Q

most often associated with exstrophy of the bladder and abnormal closure of the ventral body wall

A

Epispadias

42
Q

occurs when there is insuf- ficient androgen stimulation for growth of the external genitalia.

A

Micropenis

43
Q

Micropenis is usually caused by

A

primary hypogonadism or hypothalamic or pituitary dysfunction.

44
Q

may occur if the genital tubercle splits.

A

Bifid penis or double penis

45
Q

may appear as a large clitoris or a small penis.

A

Ambiguous genitalia

46
Q

typically male with a small penis that is open on its ventral surface

A

Hypospadias

47
Q

both ovarian and testicular tissues are present.

A

ovotesticular disorders of sex development [formerly called true hermaphrodism],

48
Q

rare disorder in which there is no production of MIS. As a result, the genitalia are normal for a male, but there are varying degrees of remnants of the mUIIerian system, including a uterus and uterine tubes.

A

Isolated deficiency of mullerian inhibiting substance

49
Q

vagina is present but usually short or poorly developed. The testes are frequently found in the inguinal or IabiaI regions, but spermato— genesis does not occur.

A

complete androgen insensitivity syndrome [CAIS]

50
Q

In these individuals there is a lack of andro- gen receptors or failure of tissues to respond to receptor—dihydrotestosterone complexes. Consequently, androgens produced by the testes are ineffective in inducing differentiation of male genitalia. B

A

androgen insensitivity syndrome [AIS].

51
Q

there is virilization to varying degrees,

A

Mild androgen insensitivity syndrome

52
Q

ambiguous genitalia may be present, including clitoromegaly or a small penis with hypospadias. Testes are usually undescended in these cases.

A

partial androgen insensitivity syndrome [PAIS]

53
Q

causes ambiguous genita- lia in males and is due to an inability to convert testosterone to dihydrotestosterone because of a lack of the reductase enzyme.

A

5-a-Reductase deficiency [5-ARD]

54
Q

causes ambiguous genita- lia in males and is due to an inability to convert testosterone to dihydrotestosterone because of a lack of the reductase enzyme.

A

5-a-Reductase deficiency [5-ARD]

55
Q

Patients may have decreased fertility, small testes, and decreased testosterone levels. Gynecomastia [enlarged breasts] is present in approximately 33% of affected individuals. Nondisjunction of the XX homologues is the most common causative factor.

A

Klinefelter syndrome

56
Q

oocytes are absent, and the ovaries appear as streak gonads. Individuals are phenotypically female but may have a variety of chromosomal complements, including XY.

A

Gonadal dysgenesis

57
Q

results from point mutations or deletions of the SRY gene. Individuals appear to be normal females but do not men- struate and do not develop secondary sexual characteristics at puberty.

A

XY female gonadal dysgenesis [Swyer syndrome]

58
Q

They have a 45,X karyotype and short stature, high- arched palate, webbed neck, shield-like chest, cardiac and renal anomalies, and inverted nipples

A

Turner syndrome

59
Q

intestinal loops may descend into the scrotum, causing a

A

Congenital indirect inguinal hernia

60
Q

Sometimes, obliteration of this passageway is irregular,leaving small cysts along its course. Later, these cysts may secrete fluid, forming a

A

hydrocele of the testis and/or spermatic cord

61
Q

one or both testes fail to descend.In such a case, portions of scend. The condition is called

A

Cryptochidism

Embryology (Langman's) (17 decks)

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