Chap 128: Dysmorphology

Question 1

means Single error in
morphogenesis that results
in a series of subsequent
defects and multiple malformation

Answer 1

sequence

Question 2

means Mechanical (uterine) force
that alters structure of
intrinsically normal tissue

Answer 2

deformation sequence

Question 3

means In utero tissue destruction
after a period of normal
morphogenesis

Answer 3

disruption sequence

Question 4

means Atypical organization of

cells into tissues or organs

Answer 4

dysplasia sequence

Question 5

structural defect arising from a localized error in morphogenesis that results in the abnormal formation of a tissue or organ

Answer 5

malformation

Question 6

what kind of dysmorphology is these:
Pierre-Robin sequence, in which a small jaw results in
glossoptosis and cleft palate
DiGeorge sequence of primary 4th brachial arch and 3rd
and 4th pharyngeal pouch defects, leading to aplasia or
hypoplasia of the thymus and parathyroid glands, aortic
arch anomalies, and micrognathia

Answer 6

sequence

Question 7

what kind of dysmorphology is this:
Oligohydramnios produces deformations by in utero
compression of limbs (e.g., dislocated hips, equinovarus foot
deformity), crumpled ears, or small thorax

Answer 7

deformation sequence

Question 8

what kind of dysmorphology is this:
Amnionic membrane rupture sequence, leading to amputation
of fingers/toes, tissue fibrosis, and tissue bands

Answer 8

dysruption sequence

Question 9

what kind of dysmorphology is this:
Neurocutaneous melanosis sequence, with atypical migration
of melanocyte precursor cells from the neural crest to the
periphery, manifesting as melanocytic hamartomas of skin and
meninges

Answer 9

dysplasia sequence

Question 10

what kind of dysmorphology is this:
Trisomy 21
Teratogens
Numerous multiple congenital anomaly syndromes as
described above

Answer 10

malformation syndrome

Question 11

defined as a pattern of multiple abnormalities that

are related by pathophysiology, resulting from a single, defined etiology.

Answer 11

syndrome

Question 12

efers
to a nonrandom grouping of malformations in which there is an unclear, or
unknown, relationship among the malformations, such that they do not fit the
criteria for a syndrome or sequence

Answer 12

association

Question 13

study of differences in human form and the mechanism that cause them

Answer 13

dysmorphology

Question 14

how many percent have a recognizable birth defect or pattern of malformations at birth

Answer 14

2.5% or 1 in 40newborns

Question 15

how many percent of infant deaths and deaths after neonatal period are caused by congenital anomaly

Answer 15

20-30% infant deaths

30-50% deaths after neonatal period

Question 16

birth defect can be subdivided into 2

Answer 16

isolated and multiple

Question 17

isolated defect can be classified as (4)

Answer 17

malformation, dysplasia, deformation and disruption

Question 18

multiple defect can be classified as (3)

Answer 18

syndrome, sequences and association

Question 19

what defect present with characteristic pattern of vertebral segmentation defects; caused by mutation of DLL3

Answer 19

spondylocostal dystosis

Question 20

caused by extra chromosome 21

Answer 20

down syndrome

Question 21

what causes cell death in developing neurons when children exposed during pregnancy: typical features: microcephaly, dev delay, hyperactivity and facial dysmorphic

Answer 21

fetal alcohol syndrome

Question 22

many deformations involved what system

Answer 22

musculoskeletal system

Question 23

2 major intrinsic causes of deformations

Answer 23

primary neuromuscular disorders and oligohydramnios

Question 24

2 major extrinsic cause of deformation

Answer 24

fetal crowding and restriction of fetal movement

Question 25

in breech position, incidence of fetal deformation increased in how many fold

Answer 25

10 folds

Question 26

if deformation is caused by extrinsic: prognosis?

Answer 26

prognosis is excellent; correction typically occurs spontaneously

Question 27

if deformation is caused by intrinsic: prognosis?

Answer 27

poor: (multiple joint contractures resulting from CNS or peripheral nervous defects

Question 28

fetal akinesia is caused by

Answer 28

myo neural dysfucntion and lack of amniotic fluid

Question 29

fetal akinesia causes:

Answer 29

growth deficiency; pulmonary hypoplasia; short umbilical cord; limb defects and facial anomalies

Question 30

about 31st day of life, what happen?

Answer 30

ureteral bud induces metanephric tissue to form renal parenchyma

Question 31

if with renal agenesis, what happen? 3

Answer 31

lack of urine-> lack of amniotic fluid-> 1. pulmonary hypoplasia 2. fetal compression 3. amnion nodosum

Question 32

2 mechanisms are known to produce disruptions

Answer 32

1. entanglement 2. interruption of blood supply

Question 33

mechanism of disruption where a strands of amnion floating aputate a normally developed structure

Answer 33

entanglement

Question 34

if there is interruption of blood supply occurs early in gestation, the disruptive effect typically involves

Answer 34

atresia

Question 35

prognosis of disruptive effect

Answer 35

determined entirely by the extent and location of the tissue loss

Question 36

what disease is a pattern of multiple anomalies produced by mandibular hypoplasia

Answer 36

pierre robin sequence

Question 37

pathyway important during embryogenenesis

Answer 37

sonic hedgehog pathyway

Question 38

approach to a dysmorphic child which compares the manifestation in the patient against a broad and memorized knowledge of human pleiotropic disorders

Answer 38

pattern recognition approach