Ob Pathology Ch 59

Front 1

What dx?

Back 1

Pierre Robin syndrome- prominent micrognathia.

It’s a facial abnormality including micrognathia which cause tongue to retract and cause breathing problems.

Front 2

Diagnosis?

Back 2

Treacher Collins syndrome.

Malformation of facial features.

Small jaw and chin, unusual formed ears.

Front 3

D

Back 3

D

Front 4

What’s Goldenhar’s syndrome associated with?

What is the definition?

Back 4

Ears malformation.

Definition- incomplete development of ears, nose, lip, soft palate, mandible and usually one side of the body.

Front 5

What are eat malformation associations?

Back 5

Goldenhar syndrome

Hemifacial microsomia - abnormal smallness one side of the face.

Robert syndrome - small ears

Otocephaly - absence of mandible causing ears to form close together anteriorly and toward the neck.

Front 6

What do you see?

Back 6

Anterior cephalocele- Abnormal profile, hypertelorism.

Front 7

What do you see?

Back 7

Anterior cephalocele- Abnormal profile, hypertelorism.

Front 8

Midsagittal scan through face can allow you to evaluate what kind of pathology?

Back 8

Cloverleaf skull

Frontal bossing

Strawberry shaped cranium

Masses of nose and upper lip

Front 9

What do you see?

Back 9

Anterior cephalocele- Abnormal profile, hypertelorism.

Front 10

Midsagittal scan through face can allow you to evaluate what kind of pathology?

Back 10

Cloverleaf skull

Frontal bossing

Strawberry shaped cranium

Masses of nose and upper lip

Front 11

What’s the finding?

What is it associated with?

Back 11

Cloverleaf skull

Associated with ventriculomegaly, trigonocephalu, numerous skeletal dysplasia.

Front 12

What’s the finding?

Back 12

Trigonocephaly: premature closure of me topic suture.

Triangular only axial plane.

Front 13

What’s the finding?

Back 13

Ventriculomegaly.

Front 14

What’s the finding?

Back 14

Lemmon shapes skull.

Front 15

Midface hypoplasia is what?

This finding is seen with?

Back 15

Depressed or absent nose.

Seem with chromosomal abnormalities: Trisomy 21, craniosynostosis syndrome, Apert syndrome, Achondroplasia, chrons Rp dysplasia punctata, asphyxiating thoracic dysplasia.

Front 16

What’s the finding?

Back 16

Apert Syndrome- malformation ig face, hands, feet. Branchial arch syndrome— 1st branchial arch. Precursor to maxilla and mandible.

Front 17

What is achondroplasia?

Back 17

Bone growth disorder; cartilage doesn’t convert into bone- dwarfism

Front 18

What is this finding associated under?

Back 18

Midface Hypoplasia means Depressed nasal bridge

* Finding is: Achondroplasia

(It’s a skeletal dysplasia)

Front 19

What is chndrodysplasia punctata? Associated with?

Back 19

It’s skeletal abnormality- Midface hypoplasia association.

Front 20

What is frontonasal dysplasia associated with?

Back 20

Median cleft syndrome: characterized by palate/ face cleft, hypertelorism.

Essentially face defects.

Front 21

If NT is > 3mm what is this associated with?

Back 21

Chromosomal abnormality or defect. (Congenital heart disease).

Front 22

What’s the dx?

Back 22

Micrognathia

Front 23

What’s this finding?

Associated with?

Back 23

Holoprosencephaly.

Associated with hypotelorism.

Front 24

What’s this diagnosis?

Back 24

Hypotelorism

Front 25

What’s this diagnosis?

Associated with?

Back 25

Hypotelorism

Associated with: holoprosencephaly, microcephaly, craniosyntoses, phenylketonuria, ventriculomegaly.

Front 26

What’s the finding?

Associated with?

Back 26

Microcephaly

Hypotelorism

Front 27

What is the finding called when amino acid is elevated?

Back 27

Phenylketonuria

Front 28

What is the finding called when amino acid is elevated?

This is also associated with?

Back 28

Phenylketonuria

Hypotelorism

Front 29

Hypertelorism is associated with?

Dilantin effects pregnancy in which ways?

Back 29

Chromosomal abnormalities, ventriculomegaly

Dilantin affects with hypertelorism, microcephaly, cleft lip, CNS, skeletal anomalies.

Front 30

What’s the difference between microphthalmia and anopthalmia?

Back 30

Microphthalmia is small eyes. Anopthalmia is absent eyes.

Front 31

What’s the difference between microphthalmia and anopthalmia?

Back 31

Microphthalmia is small eyes. Anopthalmia is absent eyes.

Front 32

What is included with condition that have hypertelorism and premature suture closure?

Back 32

Crouzon syndrome, cephalosyndactyly, acrocephalopolysyndactyly, oculodentodigital dysplasia.

Front 33

What are considered characterizations of premature craniosynostoses?

Back 33

Crouzon syndrome

Front 34

What is acrocephalopolysyndactyly?

Back 34

Head deformity including webbed finger and toes

Front 35

What is acrocephalopolysyndactyly?

Back 35

Head deformity including webbed finger and toes

Front 36

What is oculodentodigital dysplasia?

What are the common features?

Back 36

Affects body, particularly the eyes, teeth, fingers.

Microphthalmia (small eyes) and other eye problems can lead to vision loss

Front 37

What is Holoprosencephaly?

Back 37

Brain and face abnormalities. Nasal anomalies range from absence of nice to presence of proboscis to single nostril nose.

Front 38

What is Holoprosencephaly?

Back 38

Brain and face abnormalities. Nasal anomalies range from absence of nice to presence of proboscis to single nostril nose.

Front 39

What’s cebocephaly and Arhinia?

Back 39

Cebacephaly- proboscis present to single nostril nose.

Arhinia is a absent nose

Front 40

What is Holoprosencephaly?

Back 40

Brain and face abnormalities. Nasal anomalies range from absence of nice to presence of proboscis to single nostril nose.

Front 41

What’s cebocephaly and Arhinia?

Back 41

Cebacephaly- proboscis present to single nostril nose.

Arhinia is a absent nose

Front 42

Who has a high risk to cleft palate and lip?

Back 42

Asians

Front 43

What is Holoprosencephaly?

Back 43

Brain and face abnormalities. Nasal anomalies range from absence of nice to presence of proboscis to single nostril nose.

Front 44

What’s cebocephaly and Arhinia?

Back 44

Cebacephaly- proboscis present to single nostril nose.

Arhinia is a absent nose

Front 45

Who has a high risk to cleft palate and lip?

Back 45

Asians

Front 46

What’s this finding?

Back 46

Epignathus- complex mass with cystic and solid components rising from face / back with polyhydramnios.

Front 47

What’s potential mass in sublingual and submandibular ducts called?

Differentials?

Back 47

Ranula & lymphangioma (cystic mass.

Differential: Epilus, foregut duplicated cyst, branchial cleft cyst, salivary gland, macroglossia, beckwith weidemann syndrome, myoblastoma, cystic hygroma.

Front 48

What’s the most common neck abnormality?

Back 48

Cystic hygroma colli (lymphatic obstruction)

Front 49

What’s the most common neck abnormality?

It causes a high risk for?

What’s a defect?

Back 49

Cystic hygroma colli (lymphatic obstruction)

Turners syndrome (high risk)

Chromosomal defects