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KSUCPM EMBRYOLOGY > ANOMALIES > Flashcards

ANOMALIES Flashcards

1
Q

esophagus ends in blind tube

A

atresia

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2
Q

narrowing of the lumen that results from incomplete recanalization or failure of esophageal vessels to develop in affected area

A

stenosis

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3
Q

marked muscular thickening of the pylorus affecting the distal sphincteric region of the stomach

A

hypertrophic pyloric stenosis

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4
Q

partial occlusion of the duodenal lumen resulting to incomplete recanalization from defective vacuolation

A

duodenal stenosis

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5
Q

complete occlusion of the duodenum and so complete recanalization fails to occur due to lack of vacuolation, leading to polyhydramnios in utero

A

duodenal atresia

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6
Q

small caudal part of hepatic diverticulum becomes the gall bladder and the stalk of the diverticulum forms the cystic duct

A

hepatic diverticulum

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7
Q

ring like part of the pancreas surrounding the duodenum which may cause obstruction , inflammation causes the blockage of the duodenum and associated with down sydrome, intestinal malrotation, and cardiac defects

A

annular pancreas

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8
Q

ventral u shaped midgut loop that projects into the extra embryonic coelom

A

herniation of the midgut loop (primary intestinal loop)

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9
Q

persistent herniation of abdominal contents into the umbilical cord

A

congenital omphalocele

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10
Q

birth defect of the abdominal wall caused by the defect lateral to the median plane in anterior abdominal wall and so there this is a defect in the closure of the abdominal wall

A

gastrochisis

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11
Q

intestine does not rotate as it reenters the abdomen

A

nonrotation of the gut

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12
Q

malrotation of the gut

A

sub hepatic cecum and appendix

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13
Q

malrotation, failure of the midgut loop to complete final 90 degrees of rotation

A

intestinal atresia (duodenal obstruction)

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14
Q

improperly positioned and incompletely fixed intestine, twisting of midgut, mobile cecum

A

midgut volvulus

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15
Q

small intestine passes into mesentery of the midgut loop during return to the abdomen?

A

internal hernia

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16
Q

partial or complete occlusion, obstruction lesion usually in duodenum or ileum

A

stenosis and atresia of intestine

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17
Q

out pouching of the ileum

A

congenital illeal diverticulum

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18
Q

anal canal may end blindly?

A

imperforate anus

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19
Q

fistula may open up into urethra in males or vagina in females

A

imperforate anus: fistula

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20
Q

anus is in normal position but anus and anal canal are narrow?

A

anal stenosis

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21
Q

anus is in normal position but thin layer of tissue separates anal canal from the exterior

A

membranous atresia

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22
Q

anal can and rectum are present but separated

A

rectal atresia

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23
Q

diaphragm fails to close with pleuroparitoneal membranes with the other three parts of the diaphragm

A

congenital diaphragmatic hernia

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24
Q

half the diaphragm has defective musculature and balloons into the thoracic cavity as a membranous sheet

A

eventuation of diaphragm

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25
Q

congenital fissure in the anterior abdominal wall

A

gastroschisis

26
Q

rare keratinizing disorder
autosomal recessive inheritance and defect in ABCA12 gene
premature

A

harlequin ichthyosis

27
Q

usually born premature
covered with thick, taut membrane
membranous skin cracks and falls off in the large intestine
deficiency in the TGM1

A

colloidal infant

28
Q

looks like collodion baby at first, but scaling persists. Growth of hair and sweat glands impeded. Autosomal recessive disorder

A

lamellar ichthyosis

29
Q

deletion or mutation in STS gene. Neonates have pink or red skin with large translucent scales

A

x-linked ichthyosis

30
Q

skin may have blisters and appear to be peeling at birth. Autosomal dominant inheritance

A

epidermolytic ichthyosis

31
Q

autosomal recessive condition
skin, hair, retina lack pigment
melanocytes fail to produce melanin

name a specific example?

A

albinism

piebaldism which is localized albinism

32
Q

excessive hairiness

A

hypertrichosis

33
Q

aberrations in enamel formation

enamel may be hard, soft, potted, smooth, thin or normal thickness

A

angiogenesis imperfecta

34
Q

one or more (extra) teeth

A

supernumerary

35
Q

one or more missing teeth

A

partial anodontia

36
Q

no teeth develop

A

total anodntia

37
Q

partially divided tooth

A

germination

38
Q

brownish yellow discoloration

still affect children up to 8 yrs old

A

discolored teeth

39
Q

remnant of the notochord that persists into adulthood

A

chordoma

40
Q

short neck
low hairline
restricted neck movements
fusion of one or more vertebrate

A

lipped fell syndrome

41
Q

partial or complete absence of neurocranium

A

acrania

42
Q

absence of pectoralis major and minor muscles, ipsilateral breast hypoplasia, absence of 2-4 ribs

A

Poland syndrome

43
Q

absence of a limb or limbs

A

Amelia

44
Q

absence of a part of a limb

A

meromelia

45
Q

absence of tibia or fibula

A

hemimetia

46
Q

known as a cleft hand/foot
absence of one or more central digits due to failure of development of one or more digital rays
autosomal dominant abnormality with incomplete penetrance

A

split hand and foot malformations

47
Q

common musculoskeletal deformation
bilateral in 50% of cases
multifactorial
abnormal positioning of feet bit not always

A

congenital clubfoot

48
Q

presence of supernumerary digits

A

polydactyly

49
Q

cutaneous synactyly which is the webbing between digits

fusion of bones

A

syndactyly

50
Q 
autosomal dominant disorder
underdevelopment of zygomatic bones of face
down slanting palpebral fissures
defects of lower eyelids
deformed external ears
mutation of the TCOF1 gene
A

treacher collins syndrome, malformation of the 1st pharyngeal arch

also, Pierre Robin Syndrome and bilateral cleft palate

51
Q

born without thymus and parathyroid glands

3rd and 4th pharyngeal pouches fail to differentiate

A

Digeorge syndrome

52
Q

remnants of the cervical sinus and or the 2nd groove can persist and form a cyst

lie in front of neck

late childhood

enlarging, painless swelling of neck

A

cervical (branchial) cysts

53
Q

most common metabolic disorder in neonates

multiple candidate genes

results in neurodevelopment disorders and infertility if untreated

A

congenital hypothyroidism

54
Q

absence of thyroid gland or one of its lobes

rare

A

agenesis of thyroid gland

55
Q

type of agenesis affecting development of thyroid where there is the unilateral failure of formation and the left lobe is commonly absent and cause is mutation in the receptor for TSH

A

thyroid hemiagenesis

56
Q

tongue tied
lingual frenulum connects inferior surface of the tongue to floor of mouth and here it is shortened
interferes with tongue protrusion

A

congenital ankyloglossia

57
Q

excessively large tongue

A

macroglossia

58
Q

excessively small tongue

A

microglossia

59
Q

bifid or cleft tongue with incomplete fusion of lateral lingual swellings resulting in deep midline groove and sometimes tongue is split at tip

A

glossochisis

60
Q

result from deficiency of mesenchyme in the maxillary prominence and median palatine process

A

cleft lip and palate: anterior cleft defects

61
Q

clefts of the secondary palate that extend through the soft and hard regions of the palate to the incisive fossa

A

cleft lip and cleft palate: posterior cleft defects

KSUCPM EMBRYOLOGY (7 decks)

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