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PEDO (Spring) > 7. Congential Disorders > Flashcards

7. Congential Disorders Flashcards

1
Q

Define a syndrome

A

group of medical signs and symptoms that are correlated to each other

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2
Q

Etiology of most syndromes is

A

genetics

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3
Q

How are syndromes names (now v.s past)

A

Past
-Named by the scientist that discovered it

Now
-Named by etiology

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4
Q

Most syndromes are autosomal (dominant/recessive)

A

dominant

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5
Q

T/F genetic mutations can have different phenotypic expressions

A

t

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6
Q

What is the second most common congenital physical birth defects

A

cleft lip and palate

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7
Q

Describe the differences in race with cleft lip and palate incidence

A

Asians> Whites> Blacks

2:1000)>(1:1000)>(0.5:1000

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8
Q

Describe the difference in cleft lip/palate between genders

A

CL +/- P –> M>F

CP alone –> F>M

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9
Q

Which is more commonly associated with syndromes when alone (cleft lip/cleft palate)

A

cleft palate

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10
Q

Likelihood that a mother with cleft lip/palate has a child with it

A

15%

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11
Q

likelihood that if 1 child has a cleft lip/palate so will the 2nd

A

4%

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12
Q

likelihood that if 2 children have a cleft lip/palate so will the next

A

9%

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13
Q

T/F Majority of cases of CL/CP are familial

A

F sporadic

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14
Q

T/F Environmental conditions (i.e smoking) have been linked to CL/CP

A

T- Mother smoking when pregnant, anticonvulsants, alcohol, etc.

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15
Q

When does lip and palate development occur

A

4-8 weeks in utero

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16
Q

The frontonasal prominance gives rise to

A

medial and lateral nasal prominances

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17
Q

Maxillary and mandibular prominances are derived from

A

neural crest cells from the first pharyngeal arch

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18
Q

Primary and Secondary palate formaiton

A

Primary Palate Formation

  • Premaxilla
  • Medial palatal shelves fuse

Secondary palate

  • Posterior to incisive foramen
  • Develops from 6-12 weeks
  • Fusion of lateral palatal shelves
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19
Q

How does a cleft lip form

A

failure of fusion between the medial nasal process and maxilary prominance

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20
Q

How does a cleft alveolus form

A

failure of fusion between the medial and lateral palatine processes

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21
Q

How does a cleft palate form

A

Failure of fusion between the lateral palatal shelves

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22
Q

Veau classification of cleft lip

A 
I= Noticing at vermillion boarder not extending into the lip
II= Extends through the lip but not through the floor of the nose 
III= Extends into the floor of the nose
IV= Bilateral
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23
Q

Veau Classification of the Cleft Palate

A 
I= Soft palate only 
II= Soft and hard palate but not alveolous
III= S+H palate and alveolus
IV= Bilateral alveolar process involvement
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24
Q

Treatment phases for cleft lip and palate

A

0-6 mo

  • Primary lip repair
  • Presurgical orthodontitis??

12-18 mo.
-Primary palatal repair

12mo-6 yrs

  • Prophylaxis and routine exams
  • Speech surgery ??
  • Secondary lip/palatal survery revision??

6-12 y/o

  • Palatal expansion and alveolar grafe surgery?
  • Phase I ortho?
  • Protraction headgear?

12-18 y/o

  • Phase II ortho
  • Orthognathic surgery

18+ y.o

  • Definitive prosthetic work??
  • Definitive speech surgery??
  • Definitive lip/nose/scar revision??
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25
Q

What is craniosynostosis

A

Premature closing of one or more cranial suture

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26
Q

Results from craniosynostosis

A
  • Abnormal skull/forehead shape
  • Asymmetrical eyes/ears
  • Increased intracranial pressure
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27
Q

Syndromes associated with craniosynostosis

A

-Crouzon’s and alpert’s syndrome

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28
Q

What syndromes are assocaited with cleft palate

A
  • Pierre Robine Sequence
  • Digorge/ Velo-Cardio-Facial/ 22 deletion syndrome
  • Mandibulofacial dysostosis
  • Alpert’s syndrome
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29
Q

Tx for craniosynostosis

A

surgery in infancy to separate suture and reshape the bones

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30
Q

Describe the types of carniosynostosis

  • Plagiocephaly
  • Trigonocephaly
  • Bracbhcephaly
  • Scaphocephaly
A
  • Plagiocephaly- coronal or lambdoid suture
  • Trigonocephaly- metopic suture
  • Brachycephaly- both sides of coronal suture
  • Scaphocephaly- Sagittal suture
31
Q

What is deformational plagiocephaly

A

Asymmetric head shape due to external forces (cranial sutures are normal)

32
Q

Causes of deformational plagiocephaly

A
  • Premature birth
  • Muscular torticollis
  • Restricted interuterine environment
  • Sleeping in same position for extended periods of time
33
Q

Tx of deformational plagiocephaly

A

Helmet molding

34
Q

Gene and inheritance pattern of crouzon’s syndrome

A
  • Autosomal dominant

- FGFR2/3 (role in bone growth)

35
Q

Characteristics of Crouzon’s syndrome

A

Craniosynostosis

  • Many sutures involved
  • Brachycephaly, scaphocephaly, trigonocephaly
  • Cloverleaf skull (severe) kleeblattschadel
  • Increased intracranial pressure
  • Shallow orbits
  • Ocular proptosis (buldging eyes)
36
Q

Mental deficiency in Crouzon’s is (common/rare)

A

rare

37
Q

Dental finds of crouzon’s are

A
  • Class III malocclusion
  • Narrow palate
  • Maxillary hypoplasia
38
Q

Tc for Crouzon’s syndrome

A

many surgeries

39
Q

Genes and inheritance pattern of Alpert’s disease

A
  • Same as Crouzon’s
  • AD
  • FGFR2
40
Q

Characteristics of Alpert’s syndrome

A
  • Acrobrachycephaly (tower skull- coronal suture is fused)
  • Syndactyly of digits 2,3,and 4
  • Mental retardation common
  • Downward slanting palpebral fissures
  • Proptosis
  • Hypertelorism
  • Ear anomalies
41
Q

Oral/Dental anomalies associated with alpert’s syndrome

A
  • Cleft palate
  • Class III malocclusion
  • V-shaped arch
  • Anterior open bite
42
Q

Tx for Alpert’s syndrome

A

-Many surgeries

43
Q

Another name for mandibulofacial dysostosis is

A

treacher collin’s syndrome

44
Q

Gene and inheritance pattern of treacher collin’s

A 
Chromosome 5q31 (TCOF1 gene) 
-AD
45
Q

Syndromes associated with defects in structures derived from the 1st and 2nd pharyngeal arches are

A
  • Mandibulofacial dysotosis

- Craniofacial (hemifacial) microsomia

46
Q

Features of treacher collin’s syndrome

A

Hypoplastic Zygoma

  • Narrow face
  • Depressed cheeks
  • Downslanting palebral fissues
  • Coloboma= notch on outer portion of lower eyelid
  • Ear anomalies
  • Hearing loss
47
Q

Oral findings with treacher collins

A
  • Cleft palate

- Hypoplastic mandible (poor airway- difficulting feeding and breathing)

48
Q

Tx for treacher collins

A

many surgeries

49
Q

What is the most common facial birth defect after CLP

A

craniofacial (hemifacial) microsomia

50
Q

Features of craniofacial microsomia

A

-Asymmetric presentation
-OMNES
O= Orbit
M=mandible
N=Nerves
E=Ear
S=Soft tissue

51
Q

Inheritance pattern and genetics associated with the etiology of hemifacial microsomia

A
  • usually spontaneous mutation- theorized to cause vascular deficiency in the formation of the fetal face (~4 week gestation
  • Affects the structures derived from the 1st and 2nd pharyngeal arches
52
Q

Triad of symptoms in Pierre Robin Sequence

A

-Micrognathia, cleft palate, and glossoptosis

53
Q

What is glossoptosis

A

Posterior and low displaced position of the tongue causing airway obstruction

54
Q

Why is Pier Robin Sequence not termed a syndrom

A

no genetic link

55
Q

Cause of Pierre Robin sequence

A

Unknown- 3 theories

  • Intrauterine mandibular constrint –> failure of tongue to descend –> failure of palatal shelves to fuse
  • Absent or delayed lowering of tongue
  • Neurogenic hypotonia –> lack of mandibular exercise
56
Q

Characteristics of Pierre Robine Sequence

A
  • Respiratory difficulties

- Some have congenital heart disease

57
Q

Treatment for Pierre Robin Sequence

A

Possible mandibular distraction or mandibular advancement

58
Q

Describe the gene and inheritance pattern of cleidocranial dysplasia

A
  • CBFA1 (RUN X2) Chromosome 6 –> guides osteoblastic differentiation
  • AD
59
Q

Characteristics of cleidocranial dysplasia

A
  • Clavicular (small or absent) and dental abnormalities
  • Large head
  • Frontal/ parietal bossing
  • Small face (hypoplastic zygoma)
  • Hypertelorism
  • Broad nose
  • Short
  • Delayed closure of cranial sutures
60
Q

Dental anomalies associated with CCD

A
  • Unerupted multiple supernumerary teeth
  • Distorted crown and root shape
  • Lack cementure
61
Q

How can you expose the unerupted teeth in CCD

A

ortho extrusion

62
Q

Another name for progressive hemifacial atrophy is

A

parry romberg

63
Q

Cause of Parry Romberg

A

unknown (theorized autoimmune diseases

64
Q

Characteristics of progressive hemifacial atrophy

A
  • Slow progressive atrophy of muscles and soft tissue of half the face
  • Onset ~5-15 y/o
  • Progresses for 2-10 years then stabilizes
65
Q

Other health issues associated with Pery Romberg are

A
  • Seizures
  • Skin
  • Pigmentation (Vitiligo)
  • Eye problems
  • Trigeminal neuralgia
66
Q

Treamtne for progressive hemifacial atrophy

A

No known Tx

  • Reconstructive surgery when stabilizes
  • Experimental drugs targeting immune system
67
Q

Another name for DiGeorge Syndrome

A

Velo-Cardio-Facial/ 22q11.2 deletion syndrome

68
Q

Genetics and inheritance patterns of Digeorge syndrome

A
  • Chromosome 22 (long arm)

- Autosomal dominant

69
Q

Characteristics of Velo-Cardio-Facial syndrome

A
  • Cleft palate
  • Long face
  • Underdeveloped lower jaw
  • Hearing loss
  • Heart anomolies
  • Learning disabilities
  • Thymic hypoplasia
70
Q

Syndromes associated with ear anomalies are

A
  • Alperts

- TC syndrome

71
Q

Syndromes with Hypoplastic zygoma

A
  • TC syndrome

- Cleidocranial Dysplasia (CCD)

72
Q

Syndromes associated with hearing loss

A
  • TC syndrome
  • Hemifacial microsomia
  • Digeorge/ Velo-cardio-facial syndrome
73
Q

What syndrome is most commonly associated with cleft palate

A

Digeorge/ Velo-cardio-facial/ 22q11.2 deletion syndrome

PEDO (Spring) (9 decks)

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