ANOMALIES Flashcards
esophagus ends in blind tube
atresia
narrowing of the lumen that results from incomplete recanalization or failure of esophageal vessels to develop in affected area
stenosis
marked muscular thickening of the pylorus affecting the distal sphincteric region of the stomach
hypertrophic pyloric stenosis
partial occlusion of the duodenal lumen resulting to incomplete recanalization from defective vacuolation
duodenal stenosis
complete occlusion of the duodenum and so complete recanalization fails to occur due to lack of vacuolation, leading to polyhydramnios in utero
duodenal atresia
small caudal part of hepatic diverticulum becomes the gall bladder and the stalk of the diverticulum forms the cystic duct
hepatic diverticulum
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
annular pancreas
ventral u shaped midgut loop that projects into the extra embryonic coelom
herniation of the midgut loop (primary intestinal loop)
persistent herniation of abdominal contents into the umbilical cord
congenital omphalocele
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
gastrochisis
intestine does not rotate as it reenters the abdomen
nonrotation of the gut
malrotation of the gut
sub hepatic cecum and appendix
malrotation, failure of the midgut loop to complete final 90 degrees of rotation
intestinal atresia (duodenal obstruction)
improperly positioned and incompletely fixed intestine, twisting of midgut, mobile cecum
midgut volvulus
small intestine passes into mesentery of the midgut loop during return to the abdomen?
internal hernia
partial or complete occlusion, obstruction lesion usually in duodenum or ileum
stenosis and atresia of intestine
out pouching of the ileum
congenital illeal diverticulum
anal canal may end blindly?
imperforate anus
fistula may open up into urethra in males or vagina in females
imperforate anus: fistula
anus is in normal position but anus and anal canal are narrow?
anal stenosis
anus is in normal position but thin layer of tissue separates anal canal from the exterior
membranous atresia
anal can and rectum are present but separated
rectal atresia
diaphragm fails to close with pleuroparitoneal membranes with the other three parts of the diaphragm
congenital diaphragmatic hernia
half the diaphragm has defective musculature and balloons into the thoracic cavity as a membranous sheet
eventuation of diaphragm
congenital fissure in the anterior abdominal wall
gastroschisis
rare keratinizing disorder
autosomal recessive inheritance and defect in ABCA12 gene
premature
harlequin ichthyosis
usually born premature
covered with thick, taut membrane
membranous skin cracks and falls off in the large intestine
deficiency in the TGM1
colloidal infant
looks like collodion baby at first, but scaling persists. Growth of hair and sweat glands impeded. Autosomal recessive disorder
lamellar ichthyosis
deletion or mutation in STS gene. Neonates have pink or red skin with large translucent scales
x-linked ichthyosis
skin may have blisters and appear to be peeling at birth. Autosomal dominant inheritance
epidermolytic ichthyosis
autosomal recessive condition
skin, hair, retina lack pigment
melanocytes fail to produce melanin
name a specific example?
albinism
piebaldism which is localized albinism
excessive hairiness
hypertrichosis
aberrations in enamel formation
enamel may be hard, soft, potted, smooth, thin or normal thickness
angiogenesis imperfecta
one or more (extra) teeth
supernumerary
one or more missing teeth
partial anodontia
no teeth develop
total anodntia
partially divided tooth
germination
brownish yellow discoloration
still affect children up to 8 yrs old
discolored teeth
remnant of the notochord that persists into adulthood
chordoma
short neck
low hairline
restricted neck movements
fusion of one or more vertebrate
lipped fell syndrome
partial or complete absence of neurocranium
acrania
absence of pectoralis major and minor muscles, ipsilateral breast hypoplasia, absence of 2-4 ribs
Poland syndrome
absence of a limb or limbs
Amelia
absence of a part of a limb
meromelia
absence of tibia or fibula
hemimetia
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
split hand and foot malformations
common musculoskeletal deformation
bilateral in 50% of cases
multifactorial
abnormal positioning of feet bit not always
congenital clubfoot
presence of supernumerary digits
polydactyly
cutaneous synactyly which is the webbing between digits
fusion of bones
syndactyly
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
treacher collins syndrome, malformation of the 1st pharyngeal arch
also, Pierre Robin Syndrome and bilateral cleft palate
born without thymus and parathyroid glands
3rd and 4th pharyngeal pouches fail to differentiate
Digeorge syndrome
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
cervical (branchial) cysts
most common metabolic disorder in neonates
multiple candidate genes
results in neurodevelopment disorders and infertility if untreated
congenital hypothyroidism
absence of thyroid gland or one of its lobes
rare
agenesis of thyroid gland
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
thyroid hemiagenesis
tongue tied
lingual frenulum connects inferior surface of the tongue to floor of mouth and here it is shortened
interferes with tongue protrusion
congenital ankyloglossia
excessively large tongue
macroglossia
excessively small tongue
microglossia
bifid or cleft tongue with incomplete fusion of lateral lingual swellings resulting in deep midline groove and sometimes tongue is split at tip
glossochisis
result from deficiency of mesenchyme in the maxillary prominence and median palatine process
cleft lip and palate: anterior cleft defects
clefts of the secondary palate that extend through the soft and hard regions of the palate to the incisive fossa
cleft lip and cleft palate: posterior cleft defects
