ANOMALIES

Question 1

esophagus ends in blind tube

Answer 1

atresia

Question 2

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

Answer 2

stenosis

Question 3

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

Answer 3

hypertrophic pyloric stenosis

Question 4

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

Answer 4

duodenal stenosis

Question 5

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

Answer 5

duodenal atresia

Question 6

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

Answer 6

hepatic diverticulum

Question 7

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

Answer 7

annular pancreas

Question 8

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

Answer 8

herniation of the midgut loop (primary intestinal loop)

Question 9

persistent herniation of abdominal contents into the umbilical cord

Answer 9

congenital omphalocele

Question 10

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

Answer 10

gastrochisis

Question 11

intestine does not rotate as it reenters the abdomen

Answer 11

nonrotation of the gut

Question 12

malrotation of the gut

Answer 12

sub hepatic cecum and appendix

Question 13

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

Answer 13

intestinal atresia (duodenal obstruction)

Question 14

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

Answer 14

midgut volvulus

Question 15

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

Answer 15

internal hernia

Question 16

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

Answer 16

stenosis and atresia of intestine

Question 17

out pouching of the ileum

Answer 17

congenital illeal diverticulum

Question 18

anal canal may end blindly?

Answer 18

imperforate anus

Question 19

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

Answer 19

imperforate anus: fistula

Question 20

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

Answer 20

anal stenosis

Question 21

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

Answer 21

membranous atresia

Question 22

anal can and rectum are present but separated

Answer 22

rectal atresia

Question 23

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

Answer 23

congenital diaphragmatic hernia

Question 24

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

Answer 24

eventuation of diaphragm

Question 25

congenital fissure in the anterior abdominal wall

Answer 25

gastroschisis

Question 26

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

Answer 26

harlequin ichthyosis

Question 27

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

Answer 27

colloidal infant

Question 28

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

Answer 28

lamellar ichthyosis

Question 29

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

Answer 29

x-linked ichthyosis

Question 30

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

Answer 30

epidermolytic ichthyosis

Question 31

autosomal recessive condition skin, hair, retina lack pigment melanocytes fail to produce melanin name a specific example?

Answer 31

albinism piebaldism which is localized albinism

Question 32

excessive hairiness

Answer 32

hypertrichosis

Question 33

aberrations in enamel formation | enamel may be hard, soft, potted, smooth, thin or normal thickness

Answer 33

angiogenesis imperfecta

Question 34

one or more (extra) teeth

Answer 34

supernumerary

Question 35

one or more missing teeth

Answer 35

partial anodontia

Question 36

no teeth develop

Answer 36

total anodntia

Question 37

partially divided tooth

Answer 37

germination

Question 38

brownish yellow discoloration | still affect children up to 8 yrs old

Answer 38

discolored teeth

Question 39

remnant of the notochord that persists into adulthood

Answer 39

chordoma

Question 40

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

Answer 40

lipped fell syndrome

Question 41

partial or complete absence of neurocranium

Answer 41

acrania

Question 42

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

Answer 42

Poland syndrome

Question 43

absence of a limb or limbs

Answer 43

Amelia

Question 44

absence of a part of a limb

Answer 44

meromelia

Question 45

absence of tibia or fibula

Answer 45

hemimetia

Question 46

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

Answer 46

split hand and foot malformations

Question 47

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

Answer 47

congenital clubfoot

Question 48

presence of supernumerary digits

Answer 48

polydactyly

Question 49

cutaneous synactyly which is the webbing between digits | fusion of bones

Answer 49

syndactyly

Question 50

``` 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 ```

Answer 50

treacher collins syndrome, malformation of the 1st pharyngeal arch also, Pierre Robin Syndrome and bilateral cleft palate

Question 51

born without thymus and parathyroid glands 3rd and 4th pharyngeal pouches fail to differentiate

Answer 51

Digeorge syndrome

Question 52

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

Answer 52

cervical (branchial) cysts

Question 53

most common metabolic disorder in neonates multiple candidate genes results in neurodevelopment disorders and infertility if untreated

Answer 53

congenital hypothyroidism

Question 54

absence of thyroid gland or one of its lobes rare

Answer 54

agenesis of thyroid gland

Question 55

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

Answer 55

thyroid hemiagenesis

Question 56

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

Answer 56

congenital ankyloglossia

Question 57

excessively large tongue

Answer 57

macroglossia

Question 58

excessively small tongue

Answer 58

microglossia

Question 59

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

Answer 59

glossochisis

Question 60

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

Answer 60

cleft lip and palate: anterior cleft defects

Question 61

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

Answer 61

cleft lip and cleft palate: posterior cleft defects