2- Craniofacial anomalies in children Flashcards
What are craniofacial abnormalities? (2) And what are they caused by? (2)
- group of defects caused by abnormal growth and/or development of the head and face
- can be congenital or acquired
- caused by genetic or environmental (alcohol, drugs) factors
- can be associated with many different syndromes
What kind of team can be required to manage craniofacial abnormalities in children?
can involve multidisciplinary approach - plastic surgeon, maxfax, neurosurgeon, paediatrician, paed dentist, ortho, speech therapist, ENT, genetic counsellor, team co-ordinator, social worker, psych etc
Why may you refer children with craniofacial anomalies to? To who?
for evaluation of other physical anomalies and developmental delays requiring tx and/or to identify underlying syndrome/causes
referral to paed dentist or paediatrician-geneticist
What is macro/megacephaly? Name 2 associated syndromes
= head circumference above average for age
- sometimes just plain familial and not associated with other anomalies, disabilities or complications
- associated syndromes: Fragile X syndrome (image), Neurofibromatosis type I, lysosomal storage disorders
What is microcephaly? Name causative factors and complications.
= head circumference below mean for age - disproportionate microcephaly
- factors: alcohol, prenatal drugs, radiation exposure, prenatal infections
- feature of mroe than 400 genetic syndromes
- can lead to neurological and developmental issues e.g. seizures, intellectual disability
What is cranial synostosis? (2) Describe complications. (2) Name the types (3)
= premature fusion of one or more calvarial sutures - leads to skull deformity due to restricted growth
may lead to:
- significant changes in shape of skull, face, orbits, jaw
- increased pressure within the skull with the growing brain and possible brain damage, blindness and/or developmental delay
- 1:2000 live births
- 1) sagittal 2)coronal 3)metopic
What is sagittal craniosynostosis?
aka dolichocephaly, most common
- suture runs A-P causing scaphocephaly or ‘boat’ shaped skull
- may have frontal bossing or pinched-looking temporal area
(area perpendicular to suture remains small)
What is coronal craniosynostosis? Two types, causes and examples
second most common
Bilateral - brachycephaly (short, flat head)
- forehead flat, broad and too tall
Unilateral - plagiocephaly
(slanted head)
- forehead and supraorbital rim on affected side flat, opposite side bulging out and nose may point away from suture
1/4 of coronal craniosynostosis are syndromic and due to single gene mutations or chromosomal defects
e.g. Crouzon, Apert Syndrome
What is metopic synostosis?
aka trigonocephaly
= premature fusion of suture in middle of forehead
- forehad narrow, hypotelorism, temples appear pinched
Name eye anomalies
Hypertelorism - widely spaced eyes - increased IPD
Hypotelorism - closely spaced eyes
Coloboma
- gap in structure of eye (eyelid, iris, retina or optic nerve)
Micropthalmia
- small eye globe
Anopthalmia
- absence of eye globe
What is Coloboma? Which 3 syndromes is it seen in?
gap in structure of eye (may affect eyelid, iris, retina, optic nerve)
e. g.
- Treacher Collins syndrome
- Goldenhar syndrome
- CHARGE association (coloboma, heart defects, atresia of choanae, retardation of mental and/or physical development, genital hypoplasia, ear abnormalities)
What is micropthalmia and what is it caused by?
small eye globe (uni or bilateral, even if unilateral other eye may have other anomalies)
causative factors: prenatal exposure to alcohol, teratogens, infections, chromosomal/genetic disorders
What is anopthalmia? What is it caused by?
complete absence of eye globe
caused by chromosomal anomalies or gene mutations
Name ear malformations (2)
- microtia (small or absent ear)
- external auditory canal atresia (absence of canal)
What is the most common type of congenital anomaly of the head/neck?
oral clefts
What are the variations in cleft presentation?
1) unilateral or bilateral
2) isolated cleft lip:
- complete - involves nose
or
- incomplete - lip and skin just below nose
3) bifid uvula (mildest form)
4) may only involve soft palate
5) complete cleft of soft and hard palate, alveolar process of maxilla and lip
Extra: Treacher collins syndrome causes and characteristics
rare genetic disorder (prevents normal growth of head)
- coloboma
- micrognathia
- cleft palate
- ears usually absent or unsually formed
- eyes downwards slant
- small, flat cheekbones
T of F: Oral clefts may involve lip pits
T
Characteristics of Pierre Robin sequence/syndrome
common manifestation of micrognathia
U-shaped cleft soft palate
Glossoptosis - upper airway obstruction (tongue falls back - chokes baby)
can be associated with other syndromes e.g. catch 22, FAS, treacher collins, stickler syndrome
What is hemifacial microsomia?
one side of face is underdeveloped
primary affects the ear, mouth, mandible but can also affect:
- external and middle ear
- side of skull
- thickness of cheek tissue
- upper and lower jaws
- some of nerves that allow facial movement
if both sides of face affected -> Goldenhar syndrome, brachial arch syndrome, facio-aurico-vertebral (FAV) syndrome
Difference between vascular malformation and haemangioma?
Vascular malformation:
- birthmark or growth composed of blood vessels present at birth, grows as child grows and persists into adulthood
- may cause aesthetic or functional issues
- aka lymphangioma, arteriovenous malformations, vascular gigantism
- can cause alot of bleeding if at exo sites
Haemangioma
- type of birthmark
- most common benign tumour of skin
- present at brith or appear in first months
- continues to grow 6-12m then shrinks
- aka port wine stain, strawberry haemangioma, salmon patch
Craniofacial anomalies associated with Down Syndrome
- flat facial features
- small nose
- small inner epicanthic folds and upward slanted eyes
- macroglossia
- dental anomalies (hypodontia)
- low muscle tone
