Chapter Three Flashcards
The Genetics Evaluation and Common Craniofacial Syndromes
…
Craniofacial Syndromes
_____are associated with clefting.
Children with clefts often have other _______due to a syndrome (especially with CPO or VPI).
They often involve _________structures and ear.
Many involve malformation of _______.
_____of patients with craniofacial syndromes have DD, LD, neurologic or cognitive disorders.
Hundreds
malformations
oral, pharyngeal, laryngeal
cranium/brain
Half
Craniofacial Anomalies
Effect on communication:
Articulation:
Language:
Resonance:
Articulation—malocclusion, restricted oral cavity, lingual anomalies, VPD, hearing loss, learning problems, and mental disability
Language—hearing loss, learning problems, and mental disability
Resonance—VPD, abnormalities in the shape and size of cavities of the vocal tract
Genetics Evaluation
Prenatal history
Medical history
Developmental history
Feeding history
Family history
Physical examination
Laboratory and imaging studies
Genetic counseling
Psychosocial counseling
Syndrome Identification
Importance for patient care: 1. 2. 3. 4.
Allows providers and caregivers to plan appropriate treatment and have realistic goals
Can anticipate problems through natural history of syndrome
Can determine a recurrence risk
Is important for genetic counseling for family planning
Prenatal History
Prenatal history is important to know.
Exposure to _____can increase risk for craniofacial anomalies.
teratogens
Medical History
Complications _________ must be noted.
Medical history is important for _______and for providing proper ______for older children.
before, during, and after birth
diagnosing a syndrome
treatment
Developmental History
Note __________ in school.
milestones, therapies, and progression
Feeding History
Problems are common in _____who have a cleft palate
Feeding history is important for management of feeding in ______.
infants
older children
Family History
Pedigree—
Create a pedigree of family out to ____generations.
a pictorial representation of family members and their line of descent
four
Physical Examination
Check for _______
Include a ______examination (nonhereditary features).
Examine early and present _____ of the client and family members for similarities.
microcephaly
dysmorphology
photographs
Laboratory studies:
Help make a _____.
Confirm a ______.
Imaging studies:
Identify __________ and _______
diagnosis
clinical suspicion
bone maturation and structural anomalies.
Genetics Scheduling
Educate the family about _____and ______.
Provide ____________, if necessary.
Discuss _____risks.
hereditary factors and development
referrals to school and community services
recurrence
Psychosocial Effects
Patients with craniofacial syndromes often have three fundamental problems:
1.
2.
3.
- They look abnormal.
- They sound abnormal.
- They often have learning problems.
Effects on the Child
Poor self-esteem
Anxiety
Behavioral problems
Social introversion
Effect on Family Members
Strain emotionally and financially
Often causes problems for siblings and marital problems
Dysmorphology
Malformation:
Deformation:
due to a genetic etiology (cleft palate)
Deformation—due to abnormal mechanical forces on an otherwise normal structure (burned in a fire)
Dysmorphology
Amnion:
Amniotic bands:
Amnion—the membrane surrounding the embryo and fetus
Amniotic bands—strands of tissue floating in the amniotic cavity
Can attach to limbs, the head, or other body parts and act as tourniquets
Causes deformations
Syndrome—
Association—
Sequence—
Syndrome—pattern of multiple anomalies that are pathogenically related
Association—a nonrandom occurrence of a pattern of multiple anomalies in two or more individuals that is not a known syndrome or sequence
Sequence—a series of anomalies that result from a single initiating event, anomaly, or mechanical factor
Pierre Robin Sequence
In utero:
Mandible is small or does not grow down and forward
Tongue remains in superior/posterior position
Palatal shelves and velum cannot close because the tongue is in the way
This causes a bell-shaped cleft palate and glossoptosis
Pierre Robin Sequence Triad of characteristics: 1. 2. 3.
Secondary _________ at birth
Micrognathia—small mandible
Glossoptosis—base of tongue retruded in pharynx
Wide bell-shaped cleft palate
airway obstruction
Pierre Robin Sequence
Micrognathia
Can be genetic as part of a syndrome (malformation)
Stickler’s syndrome, velocardiofacial syndrome, etc.
Can be due to __________in utero (deformation)
Multiple babies
Polyhydramnious
external mechanical interference
Pierre Robin Sequence
Early Problems—______
Tongue is _______
Inspiration causes _______
Negative pressure can cause pharyngeal collapse during sleep, resulting in _______
Airway
in the pharyngeal space.
negative pressure.
sleep apnea
Pierre Robin Sequence***
Treatment—Airway
Laying child in prone position
Glossopexy—suturing tongue to bottom lip
Tracheostomy
Distraction osteogenesis: fracture the skull and pull the mandible forward
Pierre Robin Sequence
Additional Problems***
Feeding
Hearing Loss
Risk for speech problems
Genetics of Nonsyndromic Cleft Lip w/wo Cleft Palate
Recurrence risk for parents and child is ______
Racial differences (highest to lowest):
______ cleft lip is more common than _____
3% to 5%.
Indigenous American Indians
Asians
Caucasians
African descent
Left- sided; right sided
Genetics of Syndromic Cleft Lip w/wo Cleft Palate
Over ____ syndromes are associated with facial clefts.
Cleft palate (without cleft lip) is much more likely to be associated with _________
400
a syndrome or other congenital anomalies.
Genetics of Cleft Palate Only
About ____of children with cleft palate only have a syndrome or other associated anomalies.
half
Beckwith-Wiedemann Syndrome
Hypertrophic (large) features
Macroglossia—large tongue
Treatment with a partial glossectomy
IMAGE
Beckwith-Wiedemann Syndrome
Organ______
At risk for ______
macromegaly
Wilms tumors (kidney cancer)
CHARGE Syndrome**
Coloboma
Heart defect
Atresia (choanal)
Retarded growth/development
Genitourinary anomalies
Ear anomalies/deafness
Fetal Alcohol Syndrome
Common cause of…
Distinct…
Pierre Robin Sequence and cleft palate
facial features and other birth defects
Hemifacial Microsomia
Also called:
Facioauriculovertebral (FAV) syndrome
Goldenhar syndrome
Oculoauriculovertebral Dysplasia
Hemifacial Microsomia
Unilateral lack of development (hypoplasia) malar, maxillary, mandibular processes
Cleft-like extension of corner of mouth
May have unilateral velar paresis or paralysis
Hemifacial Microsomia
Microtia/anotia:
Microtia/anotia—small or absent external ear or middle ear anomalies
Preauricular tags or pits
Hearing loss
Kabuki
Wide palpebral fissures with eversion (turning out) of the lateral portion of the lower lid
Ear anomalies
Broad nasal tip
Cleft palate or submucous cleft
Neurofibromatosis I (NF1)
Café au lait macules—pigmented spots
Neurofibromas
Velopharyngeal dysfunction
Opitz Syndrome
Laryngeal cleft leads to swallowing issues, aspiration pneumonia, and speech problems.
Opitz syndrome may require an extended period of time with a tracheostomy.
Orofacial Digital (OFD) Syndrome
Hypertelorism
Dry skin
Mental disability
X-linked dominant
Lethal in males
Orofacial Digital (OFD) Syndrome
Lobulated tongue
Notching in alveolar ridge
Multiple hyperplastic frenula
High or cleft palate
Stickler Syndrome
Pierre Robin Sequence plus:
Skeletal abnormalities
Juvenile arthritis and joint disorders
Myopia and eye abnormalities
Sensorineural hearing loss
Wide, flat face
Autosomal dominant condition
Treacher Collins Syndrome***
Downward slant of eyes
Hypoplastic malar and
zygomatic bones
Coloboma of lower eye lids
Microtia or small ears
Treacher Collins Syndrome***
Macrostomia or microstomia (mouth)
Middle ear anomalies, conductive hearing loss
Micrognathia
May have Pierre Robin Sequence
Trisomy 13
Results in…
Many have…
severe birth defects affecting the brain and heart
clefts in the midline of the lip and face
Van der Woude Syndrome***
Cleft lip/palate with bilateral lip pits on lower lip
Autosomal dominant—50% risk of recurrence
Velocardiofacial Syndrome (VCFS) One of the most common conditions assoc with cleft palate
Also known as:
Shprintzen syndrome
DiGeorge syndrome
22q11.2 syndrome
Velocardiofacial Syndrome (VCFS) Basic Phenotypic Features
Velo:
Cardio:
Facial:
Other:
Velo: velopharyngeal dysfunction
Cardio: minor cardiac, vascular anomalies
Facial: dysmorphic facial features
Other: learning disabilities, oral motor dysfunction, psychological concerns, other medical problems
Velocardiofacial Syndrome (VCFS) Variable Expressivity
Can exhibit many of the typical characteristics or only a few
Most commonly characterized by ______
abnormal speech
Velocardiofacial Syndrome (VCFS)
Velopharyngeal Dysfunction
Cleft of the soft palate
Submucous cleft
Occult submucous cleft
Pharyngeal hypotonia
Velocardiofacial Syndrome (VCFS)
Cardiac Anomalies:
Ventricular septal defect (VSD)
Atrial septal defect (ASD)
Patent ductus arteriosus (PDA)
Pulmonary stenosis
Velocardiofacial Syndrome (VCFS) Vascular Anomalies
Right-sided aortic arch
Tortuosity of retinal blood vessels
Medially displaced internal carotid arteries
Velocardiofacial Syndrome (VCFS) Facial features:
Long, narrow face with vertical maxillary excess
Narrow palpebral fissures
Flattened malar eminences
Broad nasal bridge with
narrow alar base and bulbous nasal tip
Velocardiofacial Syndrome (VCFS) Facial Features:
Thin upper lip
Micrognathia or retruded mandible, often with Class II malocclusion
Minor auricular anomalies
Abundant scalp hair
Microcephaly
Velocardiofacial Syndrome (VCFS) Common Physical Findings:
Small stature
Usually below the 10th percentile in weight and height
Long, slender fingers
Hyperextensibility of the joints
Velocardiofacial Syndrome (VCFS) Common Medical Problems:
Pierre Robin Sequence (cleft palate, micrognathia, glossoptosis with airway obstruction)
Laryngeal web
Umbilical or inguinal hernias
Velocardiofacial Syndrome (VCFS)
Common Functional Problems:
Early feeding problems
Gross and fine motor dysfunction
Conductive or sensorineural hearing loss
Outgoing personality with social disinhibition
Risk of onset of psychosis in adolescence
Velocardiofacial Syndrome (VCFS) Learning and Cognitive Findings:
Learning disabilities
Concrete thinking
Mild to moderate mental disability
Velocardiofacial Syndrome (VCFS)
Communication Problems:
Hypernasality due to velopharyngeal dysfunction (VPD)
Misarticulations, often due to verbal apraxia
Hearing loss
Language impairment
High-pitched voice
Velocardiofacial Syndrome (VCFS)
Etiology
Autosomal dominant
Deletion on chromosome 22q11.2
Velocardiofacial Syndrome (VCFS)
Diagnosis
FISH (fluorescence in situ hybridization) probe
Looks for the specific deletion in 22q11.2 area of the chromosome
Wolf-Hirschhorn Syndrome
Distinct facial features include:
Hypertelorism: wide-spaced eyes
Prominent nasal bridge
Cleft lip and/or palate
