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PEDO (Spring) > 7. Congential Disorders > Flashcards

7. Congential Disorders Flashcards

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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
What is craniosynostosis
Premature closing of one or more cranial suture
26
Results from craniosynostosis
- Abnormal skull/forehead shape - Asymmetrical eyes/ears - Increased intracranial pressure
27
Syndromes associated with craniosynostosis
-Crouzon's and alpert's syndrome
28
What syndromes are assocaited with cleft palate
- Pierre Robine Sequence - Digorge/ Velo-Cardio-Facial/ 22 deletion syndrome - Mandibulofacial dysostosis - Alpert's syndrome
29
Tx for craniosynostosis
surgery in infancy to separate suture and reshape the bones
30
Describe the types of carniosynostosis - Plagiocephaly - Trigonocephaly - Bracbhcephaly - Scaphocephaly
- Plagiocephaly- coronal or lambdoid suture - Trigonocephaly- metopic suture - Brachycephaly- both sides of coronal suture - Scaphocephaly- Sagittal suture
31
What is deformational plagiocephaly
Asymmetric head shape due to external forces (cranial sutures are normal)
32
Causes of deformational plagiocephaly
- Premature birth - Muscular torticollis - Restricted interuterine environment - Sleeping in same position for extended periods of time
33
Tx of deformational plagiocephaly
Helmet molding
34
Gene and inheritance pattern of crouzon's syndrome
- Autosomal dominant | - FGFR2/3 (role in bone growth)
35
Characteristics of Crouzon's syndrome
Craniosynostosis - Many sutures involved - Brachycephaly, scaphocephaly, trigonocephaly - Cloverleaf skull (severe) kleeblattschadel - Increased intracranial pressure - Shallow orbits - Ocular proptosis (buldging eyes)
36
Mental deficiency in Crouzon's is (common/rare)
rare
37
Dental finds of crouzon's are
- Class III malocclusion - Narrow palate - Maxillary hypoplasia
38
Tc for Crouzon's syndrome
many surgeries
39
Genes and inheritance pattern of Alpert's disease
- Same as Crouzon's - AD - FGFR2
40
Characteristics of Alpert's syndrome
- 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
Oral/Dental anomalies associated with alpert's syndrome
- Cleft palate - Class III malocclusion - V-shaped arch - Anterior open bite
42
Tx for Alpert's syndrome
-Many surgeries
43
Another name for mandibulofacial dysostosis is
treacher collin's syndrome
44
Gene and inheritance pattern of treacher collin's
``` Chromosome 5q31 (TCOF1 gene) -AD ```
45
Syndromes associated with defects in structures derived from the 1st and 2nd pharyngeal arches are
- Mandibulofacial dysotosis | - Craniofacial (hemifacial) microsomia
46
Features of treacher collin's syndrome
Hypoplastic Zygoma - Narrow face - Depressed cheeks - Downslanting palebral fissues - Coloboma= notch on outer portion of lower eyelid - Ear anomalies - Hearing loss
47
Oral findings with treacher collins
- Cleft palate | - Hypoplastic mandible (poor airway- difficulting feeding and breathing)
48
Tx for treacher collins
many surgeries
49
What is the most common facial birth defect after CLP
craniofacial (hemifacial) microsomia
50
Features of craniofacial microsomia
-Asymmetric presentation -OMNES O= Orbit M=mandible N=Nerves E=Ear S=Soft tissue
51
Inheritance pattern and genetics associated with the etiology of hemifacial microsomia
- 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
Triad of symptoms in Pierre Robin Sequence
-Micrognathia, cleft palate, and glossoptosis
53
What is glossoptosis
Posterior and low displaced position of the tongue causing airway obstruction
54
Why is Pier Robin Sequence not termed a syndrom
no genetic link
55
Cause of Pierre Robin sequence
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
Characteristics of Pierre Robine Sequence
- Respiratory difficulties | - Some have congenital heart disease
57
Treatment for Pierre Robin Sequence
Possible mandibular distraction or mandibular advancement
58
Describe the gene and inheritance pattern of cleidocranial dysplasia
- CBFA1 (RUN X2) Chromosome 6 --> guides osteoblastic differentiation - AD
59
Characteristics of cleidocranial dysplasia
- 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
Dental anomalies associated with CCD
- Unerupted multiple supernumerary teeth - Distorted crown and root shape - Lack cementure
61
How can you expose the unerupted teeth in CCD
ortho extrusion
62
Another name for progressive hemifacial atrophy is
parry romberg
63
Cause of Parry Romberg
unknown (theorized autoimmune diseases
64
Characteristics of progressive hemifacial atrophy
- 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
Other health issues associated with Pery Romberg are
- Seizures - Skin - Pigmentation (Vitiligo) - Eye problems - Trigeminal neuralgia
66
Treamtne for progressive hemifacial atrophy
No known Tx - Reconstructive surgery when stabilizes - Experimental drugs targeting immune system
67
Another name for DiGeorge Syndrome
Velo-Cardio-Facial/ 22q11.2 deletion syndrome
68
Genetics and inheritance patterns of Digeorge syndrome
- Chromosome 22 (long arm) | - Autosomal dominant
69
Characteristics of Velo-Cardio-Facial syndrome
- Cleft palate - Long face - Underdeveloped lower jaw - Hearing loss - Heart anomolies - Learning disabilities - Thymic hypoplasia
70
Syndromes associated with ear anomalies are
- Alperts | - TC syndrome
71
Syndromes with Hypoplastic zygoma
- TC syndrome | - Cleidocranial Dysplasia (CCD)
72
Syndromes associated with hearing loss
- TC syndrome - Hemifacial microsomia - Digeorge/ Velo-cardio-facial syndrome
73
What syndrome is most commonly associated with cleft palate
Digeorge/ Velo-cardio-facial/ 22q11.2 deletion syndrome

PEDO (Spring) (9 decks)

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