Pediatric Medical Issues week 2

Cleft palate and lip

What is a Cleft?

• abnormal opening or fissure

• Typically congenital malformation, but can be acquired

• can impact lips, palate, or both

What week does the velum and hard palate for in congenital development?

9th week of gestation.

Where does fusion for the primary and secondary palate form?

Incisive Foramen

Causes of Clefts

• multifactorial: not one single factor

• genetic

• environmental factors

Environmental (exogenous) factors

• teratogens: chemical agents inferring with embryonic development

• environment: lead, radiation, pollution

• Drugs and ingested substances: phenytoin, smoking, alcohol

• Viruses: rubella, influenza

• Maternal nutrition: nutritional deficiencies or obesity with diabetes

• Physical interference: crowding in utero

Primary Palate

• in front of incisive fossa

• Nasal base, alveolar ridge, lips

Classifications of Clefts

• isolated (lip/palate only) vs. in combination (both)

• incomplete (doesn’t reach incisive fossa) vs. complete (reaches incisive fossa)

• Unilateral vs. bilateral vs. Midline only

Cleft Primary Palate: Unilateral Incomplete

Contains primary palate, cleft-lip

Does not extend to incisive foramen

Cleft Primary Palate: Bilateral Complete

Cleft Primary Palate: unilateral Complete

• extends to incisive fossa

• primary palate cleft, cleft-lip

Primary Palate Cleft:

Microform cleft lip

• Very mild form

• looks like a scare

• incomplete

Primary Palate Cleft: Simonart’s Band

• Mild affect

• strand of soft tissue fills the cleft gap

• incomplete

Primary Palate Cleft: Uni incomplete

• no soft tissue to fill cleft

Primary Palate Cleft: Bi incomplete

• bilateral

• incomplete doesn’t reach incisive fossa

Primary Palate Cleft: Unilateral complete cleft lip

• extends to the incisive fossa

Primary Palate Cleft: Bilateral Complete Cleft Lip

• both sides (bilateral)

• very wide nose typically

• philtrum is called prolabial

Structure effects of cleft primary palate

´Cleft lip and orbicularis oris: muscle is affected

´Wide, flat nose with spreading nasal ala

´Short columella

´Abnormal dentition

Function effects of cleft primary palate

´Specific articulation errors (struggle with bilabial + labiodental sounds)

´Resonance affected

Clefts of secondary palate

• incomplete: doesn’t make it incisive fossa

• complete cleft palate: extends to incisive fossa

• Unilateral complete cleft lip and palate: extends from palate to the lip only on one side

• Bilateral complete cleft lip and palate: extends from palate to the lip on both sides (MOST SEVERE)

Clefts of the secondary palate: Incomplete cleft palate

• cleft palate, starts in secondary palate but DOES NOT extend to incisive fossa

Clefts of the secondary

• bifid uvula

• incomplete cleft palate, doesn’t extend to the incisive fossa

Pierre Robin Sequence

• wide bell-shaped cleft palate

• complete cleft palate

• extends from the cleft to incisive fossa

Clefts of primary and secondary palate: Unilateral complete cleft lip and palate

• cleft lip and palate

Cleft of primary and secondary palate: bilateral complete lip and palate

• Most significant and severe

Clefts of the secondary palate: effect on structure

´Absent velar aponeurosis

´Altered insertion of the levator velar muscles

´Abnormalities in nasal septum

Clefts of the secondary palate effect on function

´Velopharyngeal insufficiency

´Feeding problems and nasal regurgitation

´Eustachian tube malfunction : middle ear infections

Submucous Cleft: embryology

• etiology: results in the nasal surface

• classic triad of characteristics

• types: Overt vs. Occult

Submucous Cleft: types

• can only officially be seen on nasal surface through nasopharyngoscopy

Submucous cleft: effect on structure

´Depends on the extent: can go unnoticed

´May include a minor abnormality of the uvula or a defect of the nasal surface of the velum and hard palate

´May include an altered insertion of the levator velar muscles

Submucous cleft: Effect on function

´Velopharyngeal insufficiency

´Feeding problems and nasal regurgitation

´Eustachian tube malfunction

earlier it’s addressed less it’s dramatic

Facial Clefts: types and severity

• Can be midline or oblique

• beyond the palate facial cleft

• can be cause by: generic defects or amniotic bands

Facials Clefts: midline clefts

Facial clefts: oblique clefts

Facial clefts structure effects:

´Many structures of the face and skull can be affected

Facial Clefts: effects on function

´Cognition

´Language

´Speech

´Resonance

´Hearing

´Feeding/swallowing

Incidence of Clefts

• 2nd most common birth defect in the united states

• incidence based on - racial background, gender, laterality, type

Racial Incidence of cleft lip/palate

• American Indians

• Asians

• Caucasians

• African Americans

Cheilorraphy

cleft lip surgery

Palatoplasty

cleft palate surgery

All of the following structures are part of the velopharyngeal valve EXCEPT

• velum (soft palate)

• Base of the tongue

• lateral pharyngeal walls

• posterior pharyngeal wall

base of the tongue

Which population has the highest prevalence of clefts

• native Americans

What is the correct term for a cleft of the secondary palate that does not extend to the incisive foramen?

incomplete cleft palate

All the following are characteristics of an overt submucous cleft palate EXCEPT:

• A protrusive Premaxilla

Where are Adenoids located at?

Nasopharynx

In normal embryological development, where does fusion of the secondary palate begin?

Incisive Foramen

Craniofacial Syndromes

• usually more severe genetic

Morphology

the shape/form of a living organism

Dysmorphology

malformation: genetic condition causing abnormality

deformation: relates to abnormal physical force relating to an embryo or fetus

Syndromic Cleft Lip

genetic- malformation

Amniotic band syndrome

deformation- genetic

Syndrome

• pattern of multiple malformations that are genetically related

e.g. down syndrome

Sequence

• series of multiple abnormalities that result from a single initiating malformation

Association

• pattern of multiple malformations in people w/ no known genetic cause

Pierre Robin Sequence (PRS)

• small mandible

• tongue obstructs palatal fusion

• u-shaped palate

• struggles w/feeding and sleep apnea is commong

CHARGE Syndrome

Prevelence 1 in 9000-15,000 live birth

C.olobama eyes: defect in iris, appears as black notch

H.eart defect

A.tretic chonae- need airway support, synopsis in the nose

R.etarded Growth

G.enitourinary anomalies- hypoplastic/hypodevelopment

ea.r malformations- inner and outer ear possible, hearing loss common

Fetal Alcohol Syndrome

• not genetic- caused by use of alcohol by pregnant women

• Pierre Robin Sequence Palate (both common)

• facial features: short palpebral fissures, indistinct philtrum, thin upper lip, flat midfacel micrognathia, ear anomalies

FAS: phenotypic features

Stickler Syndrome

• pierre robin sequence plus:

• wide, flat face,

• myopia, and eye abnormalities (near sightedness)

• sensorineural hearing loss

• skeletal abnormalities- scoliosis common

• Juvenile arthritis and joint disorders

• Autosomal dominant condition

Van Der Woude Syndrome

• bilateral complete cleft lip and palate

• have bilateral lip pits on lower lip

• Autosomal dominant: 50% risk of recurrence
  

  

Velocardiofacial/22q 11.2 deletion syndrome

• deletion of gene on chromosome 22

• velo: velopharyngeal dysfunction

• cardio: minor cardiac, vascular anomalies

• facial: dysmorphic facial features

• Other: Learning disabilities, oral motor dysfunction, psychological concerns, other medical problems

• most common characteristic is hypernasal speech

• apraxia of speech is common

• 

Importance of genetic evaluation

• anticipation: helps to anticipate problems through knowledge of the natural history of the syndrome

• treatment: allow parents and providers to plan for appropriate treatment and have realistic goals

• family planning: provides information about the reoccurrence risk for family planning

What is the correct terms for a cleft of the secondary palate that does not extend to the incisive foramen

incomplete cleft palate

all of the following are characteristics of an overt submucous cleft palate except

• a bifid uvula

• zona pellucia

• a hypoplastic uvula

• a protrusive premaxilla

• a protrusive premaxilla

A pattern of VP closure that is accomplished primarily by the velar and PPW movement.

coronal pattern