Embryo Anomalies Flashcards by Nicholas de Guzman

duct can persist and form a cyst in the tongue or anterior portion of the neck&raquo_space; may perforate the skin after an infection to become a thyroglossal duct sinus

thyroglossal duct cysts

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over 5% of the population has an abnormal number or abnormal distribution pattern

variation in vertebra number

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chondrification center fails to form on one side of vertebral body&raquo_space; half of vertebra never forms

produces lateral curvature of the spine or scoliosis (other causes as well)

hemivertebra

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failure of the calvaria to develop&raquo_space; other severe anomalies concurrent

acrania

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deformities resulting from premature closure of sutures

different forms determined by which suture closed prematurely

craniosynostosis

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occurs in ~1% of infants but asymptomatic until adulthood

anomalies of the craniovertebral junction

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autosomal dominant trait resulting in lack of long bone elongation

characterized by large head, normal torso and short limbs

achondroplasia

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excessive secretion of growth hormone resulting in giantism

congenital hyperpituitarism

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result of hypersecretion of growth hormone after epiphyseal plate has closed&raquo_space; major characteristics include large mandible, hands, feet, nose and ears

acromegaly

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caused by severe hyposecretion of thyroid hormone

cretinism

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slight variations in form, position or attachments common and usually insignificant

vestigial and accessory muscles typically asymptomatic

anomalies of skeletal muscles

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shortened sternocleidomastoid

thought to be due to birthing trauma but genetics and/or fetal developmental position may also play a role

congenital torticollis (wry neck)

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(cleft hand/foot) failure of one or more digital rays to develop&raquo_space; results in hand/foot being divided into two parts that oppose each other

ectrodactyly

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shortness of phalanges&raquo_space; autosomal dominant trait

brachydactyly

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supernumerary digits&raquo_space; common autosomal dominant trait

polydactyly

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two or more digits fused together

can be cutaneous or osseous

syndactyly

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foot turned medially and inverted

multifactorial inheritance (genetics plus in utero position)

congenital talipes (clubfoot)

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capsule of hip relaxed and underdevelopment of head of femur&raquo_space; dislocation occurs during birth

congenital hip dislocation

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complete and partial absence of limb&raquo_space; extremely rare other than due to thalidomide

amelia and meromelia

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small brain and cranium but normal sized face

results in gross mental retardation

can be due to autosomal recessive gene or environmental factors such as in utero infection with cytomegalovirus

microcephaly

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failure of cleavage of the cerebrum

affected infants usually die within 6 months

several genes have been implicated with environmental influences

holoprosencephaly

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most of infant’s brain exudes from skull&raquo_space; may be left with only brainstem and improper vascularization also present

exencephaly

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failure of the bones of the cranium close

cranium bifidum

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small defect in which only the meninges containing CSF herniate

cranial meningeocele

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large defect in which part of the brain and the meninges herniate

meningoencephalocele

very large defect in which the meninges and a part of the brain contain containing a portion of the ventricular system herniate

meningohydroencephalocele

neural tube defects involving vertebral arches >> result from defective closure of caudal neuropore

spina bifida

failure of vertebral arches to fuse in median plane

spina bifida occulta

severe forms of spina bifida in which spinal cord and/or meninges protrudes through defect

spina bifida cystica

sac contains meninges and CSF but spinal cord in normal position

spina bifida with meningeocele

sac contains meninges and spinal cord

spina bifida with meningomyelocele

neural ectoderm remains on surface

rachischis

small cysts found in approximately 1/3 of individuals >> only symptomatic if infected

urachal cysts

superior or inferior portion of urachus remains patent, opening at either umbilicus or bladder respectively

urachal sinus

rare condition in which entire urachus remains patent >> provides mechanism for urine to escape through umbilicus

urachal fistula

failure of testis to descend through abdominal wall

cryptorchidism

testes pass through inguinal canal, but do not migrate into scrotum

ectopic testes

anomalies can results in inguinal hernia and hydrocele normally closes during perinatal period, however this doesn't always happen

fate of the inguinal canal

urethral orifice located along the ventral surface of the penis

hypospadias

female fetus produces excessive amounts of androgens (most commonly due to congenital adrenal hyperplasia) causing masculinization to external genitalia

female pseudohermaphroditism

heart moved to right and inverted like a mirror image the right side of the body >> caused by improper initial bending of heart tube

dextrocardia

heart only organ moved to opposite side of body

isolated dextrocardia

heart and abdominal viscera mirror imaged to opposite side of body

dextrocardia situs inversus

heart located external to thoracic cavity due to failure of lateral folds to properly close + agenesis of the sternum and loss of pericardial cavity in no other major defects present >> attempt to cover with skin

ectopia cordis

due to anomalies of septum primum or septum secundum

ostium secundum ASDs

septum primum fails to fuse with endocardial cushions thereby not closing foramen primum

endocardial cushion defect with patent foramen primum

located near opening of superior vena cava >> septum did not fully partition sinus venosus

sinus venosus ASDs

no partitioning of atria due to all of the above ASDs in the infant

common atrium

most common type of significant heart anomaly

ventricular septal defects

failure of truncal ridges to form spiral septum results in a single trunk that allows mixing of right and left ventricular blood or pulmonary arteries branch off of aorta (slide 20) can also have unequal division of the truncus arteriosus

persistent truncus ateriosus

most common form of cyanotic heart disease in newborns aorta empties right ventricle and pulmonary trunk empties left ventricle typically accompanied by ASDs and VSDs, and possibly patent ductus ateriosus

transposition of the great vessels

coloboma of the iris >> can be a genetic trait

failure of optic fissure to complete close

rare defect in which portions/remnant of hyaloid vessels remain intact

persistent hyaloid artery

opaque dot on lens where hyaloid artery attached

Mittendorf's dot

opaque lens

congenital cataracts can be genetic or caused by a teratogen (rubella or radiation most common)

inner and outer layers fail to fuse

congenital retinal detachment

occurs between pigmented epithelium and neural retina

non-congenital retinal detachment

typically presents as a small notch in superior eyelid

coloboma of the eyelids

from malformation of external or middle ear

conducting deafness

from malformation of inner ear

sensineural deafness

most common cause with multiple genes involved

genetic

malformation of organ of Corti

Rubella

general term for a group of hyper-keratinization disorders >> dry, fish-like scaling of skin

ichthyosis

genetic recessive trait where skin and hairs lack pigment

albinism

genetic dominant trait resulting in patches of albinism

piebaldism

benign skin tumors resulting from the overgrowth of small blood vessels >> typically enlarge for a few months after birth and then shrink and disappear by 5-10 years

infantile angiomas

excessive development of mammary glands in males

gynomastia

supernumerary breasts

polymastia

supernumerary nipples

polythelia

present at birth >> painful nursing, lacerate tongue or can fall out and be aspirated

natal teeth

results in pits and/or fissures in teeth underlying causes = rickets, tetracycline, infectious diseases and idiopathic

enamel hypoplasia

spherical masses of enamel formed by aberrant masses of ameloblasts

enamel pearls

supernumerary teeth that develop in area of maxillary incisors >> may disrupt eruption or position of normal teeth

mesiodens

one or more teeth absent >> familial trait

partial anodontia

rare condition resulting from congenital ectodermal dysplasia

complete anodontia

fusion of two adjacent teeth (most common) or partial splitting of a single tooth during development

macrodontia

yellowish/brown teeth resulting from hypocalcification of enamel >> dominant inheritance

ameliogenesis imperfecta

brown or bluish gray teeth resulting from hypocalcification of dentin dominant inheritance and fairly common among Caucasians

dentiogenesis imperfecta

foreign materials incorporated into forming enamel

discolored teeth

lue/black teeth due to incorporation of hemoglobin

hemolytic disease of newborns

results in greenish teeth

hyper bilirubinemia

maternal use can result in brown/yellow coloring of teeth

tetracyclines

Embryo Anomalies Flashcards

check on learning (82 cards)