Congenital Anomalies

Question 1

anomaly

Answer 1

basic unit of syndromes and sequences

Question 2

major anomalies

Answer 2

those that compromise survival, create a significant functional impairment, or result in a serious cosmetic deformity

typically require surgical or medical intervention

ex. congenital heart disease, cleft lip, and missing fingers

Question 3

minor anomalies

Answer 3

usually of no functional significance, but may of be minor cosmetic significance

ex. epicanthic folds, widely or narrowly spaced eyes, and preauricular skin tags

Question 4

types of problems in morphogenesis

Answer 4

malformation, deformation, or disruption

Question 5

malformations

Answer 5

morphologic defects in an organ, part of an organ, or area of the body resulting from an intrinsically abnormal developmental process

ex. cleft liip, polydactyly

Question 6

deformations

Answer 6

abnormal form or position of a part of the body, caused by non-disruptive mechanical forces

ex. clubfoot, mandibular asymmetry

Question 7

disruptions

Answer 7

morphologic defect(s) in an organ, part of an organ, or a larger region of the body resulting from a breakdown of, or an interference with, an originally normal developmental process

Question 8

types of malformations

Answer 8

incomplete morphogenesis - syndactyly, renal agenesis, atrial septal defect

redundant morphogenesis - ear tag, polydactyly

aberrant morphogenesis - mediastinal thyroid, paratesticular spleen

Question 9

causes of malformations

Answer 9

chromosomal - 6.0%

monogenic - 7.5%

maternal influences (intrauterine infections, diabetes mellitus, anticonvulsants, other) - 6.5%

multifactorial - 20%

unknown - 60%

Question 10

timing and severity of malformations

Answer 10

occurs during the embryonic period

level of disturbance is at the organ level

can cause perinatal mortality

cannot be spontaneously corrected

Question 11

timing and severity of deformations

Answer 11

occurs during the fetal period

level of disturbance is at the regional level

no perinatal mortality

can be spontaneously corrected

Question 12

timing and severity of disruptions

Answer 12

time of occurrence is unclear and hard to pinpoint

level of disturbance is at the regional level

may or may not be perinatal mortality

cannot be spontaneously corrected

Question 13

extrinsic causes of defomrations

Answer 13

mostly mechanical causes

ex. amniotic tear, unusual implantation site, uterine leiomyomas, twins, uterine malformation

Question 14

intrinsic causes of deformation

Answer 14

malformational - ex. spina bifida, bilateral renal agenesis, urethral atresia

functional - neurological disturbances, muscular disturbances

Question 15

sequence

Answer 15

the situation where a single anomaly can cause other anomalies to occur

ex. Robin Sequence

Question 16

Robin Sequence

Answer 16

Question 17

spina beifida sequence

Answer 17

ex. spina bifida sequence results from injury to spinal cord, which causes paralysis of the lower limb, which decreases fetal leg motion, which leads to malformation of the hip and ankle joints, which causes hip dislocation and club foot

Question 18

syndromes

Answer 18

comprised of anomalies and/or sequences

may include congenital anomalities that are not obviously related to each other

clinically useful because it describes a pattern of anomalies and are recognizeable, nameable, and studyable

good way to give prognoses to patients and their families

Question 19

significance of minor anomalies

Answer 19

minor anomalies usually accompany major anomalies

newborns with 3 or more minor anomalies have a 90% chance of having a major anomaly

42% of patients with idiopathic mental retardation have 3 or more anomalies