Lecture 2 Flashcards by Bailey Bingham

T or F: Fewer than 3% of children with clefts had associated features.

True

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The prevalence of syndromic CLP is ____

30%

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The prevalence of non-syndromic CLP is _____

70%

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Define syndrome:

The recurrent pattern of symptoms of a multi-anomaly disorder are related to a single cause.

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Define sequence:

The recurrent pattern of symptoms of a multi-anomaly disorder are related to an initial anomaly ( chain reaction effect)

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Define association:

Two or more anomalies are observed in a recurrent pattern but it is not clear if there is an underlying common etiology or sequence of events.

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What are two types of anomalies?

Deformations and Malformations

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Define Deformations:

The cause of the anomaly is extrinsic, usually arising from mechanical stress such as bending or compression.

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Define Malformations:

The cause of the malformation is intrinsic (ie. an organ developed wrong due to genetic code)

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List the 4 embryonic structures in the adult face:

Median Nasal prominence
Lateral Nasal prominence
Maxillary prominence
Mandibular prominence

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What are anthropometric measures of the normal adult face?

Divided in thirds:

Vertical relationship and Horizontal relationship

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Describe where the 4 lines are for the vertical relationship:

Hairline
Eyebrows
Bottom of nose
Bottom of chin

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Describe where the 2 sets of lines are for the horizontal relationship:

The inner corner of the eye and sides of largest part of nose
The inner side of the iris and the corners of the mouth

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Hypertelorism is when the ______ are _____

eyes

too far apart

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Hyportelorism is when the ______ are _____

eyes

too close together

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Telecanthus is when the ______ are _____

irises
not centred in the eye and are close together
(also called dystopia canthorim)

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The orientation of the palpebral fissure of the eye is important because an upslant may indicate _______ and a downslant may indicate

microcephaly

intracranial pressure

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Where is the normal ear placement?

Top of the ear is level with the eye, front of the ear is in line with the front of the neck

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Brachydactyly is ______

short fingers

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A club foot is an example of a ________.

deformation

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Amnion rupture sequence is an example of a _______

deformation

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After mechanical rupture of the amniotic sac, amniotic bands may attach to the embryo and restrict intrauterine growth. This is called ______

Amnion rupture sequence
AKA:
Amniotic deformity, adhesion and mutilation (ADAM)

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Is Pierre-Robin a malformation or a deformation?

Could be either:

if the micrognathia was mechanically induced (deformation) the mandibula will show a postnatalcatch up
if congenital malformation no catch up grow will occur

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What are the symptoms of Pierre-Robins Sequence?

Micrognathia - tongue looks too big for the oral cavity:
glossoptosis (backwards collapse of tongue -leads to apnea)
cleft palate

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Describe the 4 possible initial treatment options for the respiratory distress

Tracheotomy and gastric tube (baby can't cry) Glossopexy (fix tongue to lip) Mandibular distraction (break it and make it longer) Mandibular distraction osteogenesis (like braces for jaw, a screw thing to slowly move out)

Describe the feeding problems in Pierre Robin

- proportional to airway problems - glossoptosis affects thrust of tongue needed to suck - Reflux

Is pierre Robins a seqence or syndrome?

Pierre Robin Sequence is a sequence. It occurs in more than 30 different syndromes including 22q11 etc.

List the 9 types of syndromes discussed in class:

1) Van-der-Woude Syndrome 2) Stickler Syndrome 3) Velocardiofacial syndrome (22q11) 4) Beckwith-wiedemann Syndrome 5) Down Syndrome Trisomy 21 6) Oculo-aurico-vertebral spectrum ( goldenhar) 7) Mandibulofacial dystosis (Treacher-Collins) 8) Holoprosencephaly Sequence 9) Dyscraniosynostosis Syndromes

``` Stickler syndrome Velocardiofacial syndrome (22q11) Mandibulfacial dystosis (Treacher Collins) Moebius Syndrome Fetal Alcohol Syndrome All have _______ ```

Pierre Robins sequence

- Autosomal dominant inheritance | - Cleft lip / palate and paramedian pits of the lower lip is which syndrome

Van-der-Woude syndrome

Describe the face of Stickler syndrome:

Large eyes Low ear Small mouth

Describe 4 symptoms of stickler syndrome:

1) pierre-robin sequence 2) progressive arthropathy 3) progressive myopia and retinal detachment 4) progressive sensorineural hearing loss

T or F: Shprintzen- Syndrome, Sedlackovva- Syndrome, DiGeorge- Syndrome are all the same thing

True - Otherwise known as Velocardiofacial syndrome

Velocardiofacial syndrome has ________ inheritance and involved a microdeletion on the long arm of chromosome ____ in 75% of cases

autosomal dominant inheritance | 22

22q11 microdeletion is also known as ______________

velocardiofacial syndrome

Velocardiofacial syndrome has a prevalence of ___/____. _______% of the cases are inherited and ____% are new cases. There is no ethnic predilection.

1/2000 5-10% inherited 90-95% new cases

List three types of anomalies in velocardiofacial syndrome:

1) Velar anomalies 2) Cardial anomalies 3) Facial anomalies

Describe Velar anomalies in Velocardiofacial syndrome:

Cleft palate | (occult) submucous cleft palate

T or F: There is a conotruncal (heart) malformation in Velocardiofacial syndrome

True

T or F: Facial anomalies in velocardiofacial syndrome include a short face

False - a prolonged midface

T or F: Velocardiofacial syndrome results in susceptibility to viral infections and autoimmune disease

True - They have mild/ moderate immunodeficiency, absent or hypoplastic thalamus, intact repertoire but reduced number of T-cells

Communication disorders in velocariofacial syndrome includes:

- delayed, disordered, hypernasal speech | - delayed or disordered language

Neurodevelopment and psychiatric features of Velocardiofacial syndrome include:

1) Learning disabilities 2) Behavioural disorders (ADHD, anxiety, phobia, socially immature) 3) Psychiatric disorders

People with velocardiofacial syndrome have ___ lifetime risk of major psychiatric disorder (schizophrenia, bipolar)

30%

What syndrome presents with a baby that is large at birth, has accelerated growth, macroglossia, mandibular prognathism, enlarged internal organs, hypotonia and cognitive impairment?

Beckwith-Wiedemann Syndrome

Describe Beckwith-Wiedemann Syndrome

- a baby that is large at birth - has accelerated growth - macroglossia - mandibular prognathism - enlarged internal organs - hypotonia - cognitive impairment

Describe Down Syndrome:

- extra chromosome 21 - hypotonic protruding tongue, - maxillary hypoplasia - sometimes cleft lip and palate - flat back of the head - upslanting eyes - short neck and obesity - variable cognitive impairment

What syndrome is associated with malformation of the branchial arch supposedly due to inrauterine vascular disruption?

Oculo-aurico-vertebral spectrum (goldenhar syndrome, hemifacial microsomia)

Describe what you see with Oculo-aurico-vertebral spectrum (goldenhar syndrome, hemifacial microsomia):

- Facial asymmetry - spinal anomalies - microtia with hearing loss - ocular anomalies - cleft palate (sometimes lip) - occaisional hear disease

What syndrome consists of Facial asymmetry, spinal anomalies, microtia with hearing loss, ocular anomalies, cleft palate (sometimes lip), occasional heart disease

Oculo-aurico-vertebral spectrum | goldenhar syndrome, hemifacial microsomia

Treacher Collins Syndrome / Francheschetti Syndrome are otherwise known as _________

Mandibulofacial Dsytosis

Mandibulofacial Dystosis is due to malformation of __________

the first branchial arch

Describe the symptoms of Mandibulofacial Dystosis:

- Maxillary and mandibular hypoplasia - microstomia with downslant of mouth corners - hypoplasiaof the zygomaticum - downslant of eyes - coloboma (cleft) of lower eyelid - dysplasia of pinna - variable middle and inner ear malformations

___________ involved severe congenital dysplasia with incomplete differentiation of the prosencephalon, hypertelorism, reduced nasal height and width, aplasia of nasal septum, cleft lip and palate. Usually death within the first year but some milder forms.

Holoprosencephaly Sequence

Dyscraniosynostosis Syndromes are due to _______

premature fusion of the cranial bones wich may lead to intra cranial pressure and abnormal shape of the head.

List the 4 Dyscraniosynostosis syndromes:

1) Apert's Syndrome 2) Crouzon's Syndrome 3) Pfeiffer's Syndrome 4) Saethre-Chotzen Syndrome

Which Dyscraniosynostosis syndrome is the most severe?

Aper's Syndrome

T or F: The same terminology is used for normal and pathological skull shape variations

True

_________ means short skull

Brachycephalus

________ means boat/ long skull

Skaphocephalus

________ means leaf-shaped/ triangular skull

Trigonocephalus

________ means asymmetric skull

Plagiocephalus

______ means tower/ pointy skull

Oxycephalus

T or F: Trigonocephalus results from metopic suture dyscraniosynostosis.

True - the metopic suture fuses prematurely

Skaphocephalus results in a compressed form of the skulls from premature closure of the _____ suture. The fronto-occipital volume is _______, and the coronal sutures may be palpable

``` sagittal suture (long skull) increased ```

Plagiocephalus results from unilateral ________ suture dyscraniosynostosis. Positional plagiocephalus can be caused by_______

lambdoidal suture | leaving the baby on the back constantly

Pathological dyscraniosynostosis may result in increased __________ pressure

intracranial pressure

_________ results from a hypoplastic midface. It has a frontal open bite, lateral crossbite and pseudo prognathis

clover-leaf skull

There is 2 % of cognitive disability in the normal population and ____% in non-syndromic isolated dyscraniosynostosis

4-6%

T or F: Craniosysnostosis (skull) surgery will result in increased brain growth.

False- craniosynostosis (skull) and microcephaly (brain) are independent process. May but not necessarily.

You can change the shape of the skull through ________ or ________.

surgery | conservative helmet/ headband therapy

Apert's syndrome, Crouzon Syndrom, Pfeiffer's Syndrome are due to an autosomal dominant mutation on chromosome ____

Chromosome 10

Dyscraniosynostosis of the coronal (among other) sutures, clover-shape, popping out eyes, syndactyly of fingers/ toes, short upper arms, hydrocephalus, Class 3 occlusion (underbite?), cognitive impairment, sometimes cleft is_________

Apert's Syndrome

____ % of Apert syndrome includes a cleft palate

30%

Apert's syndrome is also called _____________

Acrocephalosyndactyly - Type 1

Management options for Apert's Syndrome include:

- Skull reshaping - Midface advancement, trache, CPAP for respiratory issues - Ear tubes - for middle ear disease - Shunts - Orthodontics

T or F: Crouzo syndrome is pretty much the same as Apert's but less severe

True

Pfeiffer's syndrome is _______ craniosynostosis of coronal sutures for clover leaf skull, maxillary hypoplasia, hyper telorism and broad ______ and _____

progressive | broad thumbs and toes

Saethre-Chotzen Syndrome has a slightly pointy skull. It is otherwise known as ____________

Acrocephaloxyndactyly- Type 3

T or F: Saethre-Chotzen Syndrome has autosomal dominant inheritance of (7p21)

True

T or F: Saethre-Chotzen involves craniosynostosis and a low hairline

True