Defects of OMF (no pic) Flashcards
(19 cards)
Orofacial clefts
Most common craniofacial malformations of the newborn (1:690 births)
CL/P: cleft lip with or without palate (~60%)
CP: cleft palate (~40%)
May be isolated or syndromic
50-70% isolated
CL/P and CP differ in regards to embryology, etiology, candidate genes, and other features
CL vs. CP
Cleft lip:
Unilateral (left side most common presentation)
Bilateral
Median (rarely)
Cleft palate:
May occur in isolation because:
Lip closure accomplished by 35 days post-conception
Palatal closure not completed until 56-58 days post-conception
Some cleft palates may present as submucosal clefts alone
Bifid uvula: minimal manifestation of cleft palate
Uncommon clefts:
Oblique facial cleft: lack of fusion of lateral nasal/maxillary processes
Lateral facial cleft: lack of fusion of maxillary/mandibular processes
Median cleft of upper lip: lack of fusion of medial nasal processes
Etiology of orofacial clefts
Genetics
Usually a genetically complex event: 2-20 genes involved in most cases
Single Mendelian disorders less common
Environmental agents
Medications: phenytoin, sodium valproate, methotrexate
Cigarette smoking
Alcohol consumption
Folate deficiency
Treatment of orofacial clefts
Attention to feeding and airway problems
Multiple surgeries often needed
Primary lip repairs can be undertaken at 3 months
Primary palatal repairs can be undertaken at 6 months
Speech therapy
Orthodontic, prosthodontic therapy
Pierre Robin sequence
Uncommon congenital clinical presentation characterized by:
Mandibular micrognathia
Glossoptosis with airway obstruction
Cleft palate
Constraint of mandibular growth in utero results in:
Failure of tongue to descend, which prevents:
Fusion of palatal shelves
Adequate respiration
Typically isolated, occasionally syndromic
Infants have feeding/speech difficulties, respiratory compromise
Airway problems self-resolve in majority of cases
Rapid facial growth typically occurs from 3-12 months of age
Mortality rate 2-11%
Usually from respiratory compromise
Paramedian lip pits
Rare congenital invaginations of lower lip
Usually bilateral and symmetric
Appearance ranges from subtle to dramatic
No treatment necessary
May be excised for cosmetic reasons
Usually inherited as part of van der Woude syndrome
IRF6 mutation
Cleft lip and/or cleft palate
Paramedian lip pits
van der Woude syndrome
Most common form of syndromic clefting
Characterized by variable expressivity
May only present as paramedian lip pits in parent but as CL/CP in child
Commissural lip pits
Small mucosal invaginations at corners of mouth on vermillion border Less than 5 mm in depth Asymptomatic Etiology unknown Hereditary? Congenital? Prevalence Adults: 10-20% Children: < 1%
Associated with increased prevalence of preauricular pits/aural sinuses
Double lip
Rare redundant tissue fold on mucosal side of lip
Usually congenital
May be acquired (trauma, lip sucking)
Occasionally syndromic (Ascher syndrome)
Upper lip usually affected
Unnoticeable at rest
Excess tissue visible during smiling or when lips tensed
Excess tissue may be excised for cosmetic purposes
Caliber persistent labial artery
Extension of superior labial artery into superficial submucosal tissues without reduction in diameter (caliber)
No treatment necessary (will bleed…)
Fissured tongue
(surprisingly) asymptomatic grooves/fissures of dorsum of tongue
Present in 2-5% of population
No treatment necessary
Ankyloglossia
(tongue-tie)
Developmental anomaly of tongue characterized by short, thick lingual frenum
Causes limitation in tongue movement ranging from mild to severe
Treated by frenotomy (clipping of frenum)
Microglossia
Abnormally small tongue
Frequently presents with mandibular hypoplasia
Most cases associated with oromandibular-limb hypogenesis syndromes
Group of anomalies affecting mandible, maxilla, tongue
Reductive limb anomalies may or may not be present
Macroglossia
Common condition characterized by tongue enlargement
Many conditions may result in macroglossia
Muscular hypertrophy in edentulous patients most common cause - don’t have teeth so use their tongues to chew.
Pressure of tongue against teeth may produce crenated appearance to lateral border
Surgical recontouring may be beneficial in select cases
Macroglossia: the differential diagnosis…
“Don’t worry about slides like this” Dr. Ivan
Muscular hypertrophy Syndromes: Beckwith-Wiedemann syndrome Down syndrome Neurofibromatosis Multiple endocrine neoplasia, type 2B Hemihypertrophy Congenital tumors Vascular malformation Hemangioma Hypothyroidism (cretinism, myxedma) Mucopolysaccharidosis Amyloidosis Angioedema
Beckwith-Wiedemann syndrome
Pediatric overgrowth disorder associated with predisposition to cancer development
Highly variable clinical presentation
Omphalocele
Macroglossia
Macrosomia/gigantism
Many others: visceromegaly, neonatal hypoglycemia, embryonal tumors (Wilms tumor, hepatoblastoma…), etc.
10-20% of children may die from complications
Prognosis favorable after childhood
- Omphalocele: protrusion outside the belly button, like a hernia or something.
Lingual thyroid
Thyroid begins embryologic development at foramen cecum in 3rd-4th week in utero
Thyroid descends and reaches definitive level in neck by 7th week in utero
Lingual thyroid: ectopic thyroid at base of tongue
Rare: occurs in 1:100,000 persons
Striking female predilection
Usually seen along midline base of tongue between foramen cecum and epiglottis
Most common symptom is dysphagia
-dysphagia: hard time swallowing.
Thyroid scan best diagnostic tool
Biopsy should be avoided because of risk of hemorrhage
Patients may be euthyroid or hypothyroid (30%)
Greater than 75% of patients: lingual thyroid represents only thyroid tissue present
Asymptomatic, euthyroid patients require no treatment
Long-term thyroid hormone replacement in cases of hypothyroidism or surgical removal
Thyroglossal duct cyst
Persistence and cystic dilatation of thyroglossal duct
- A cyst is a pathological cavity lined by epithelium. It’s not normal.
Bimodal age presentation
1st-2nd decade
5th decade
One of most common cervical lesions of infancy/childhood
2.2:100,000
Mobile, painless mass in midline of neck
75%: infrahyoid and moves up and down with swallowing
10%: secondary infection with draining fistula
Thyroid cancer present in 3% of cases
Sistrunk procedure: surgical resection of cyst, middle third of hyoid, suprahyoid thyroglossal tract up to base of tongue
Nasolabial cyst
Developmental cyst arising from epithelium associated with nasolacrimal duct
Location:
Beneath ala of nose
Anterior maxillary mucobuccal/mucolabial fold
Peak prevalence 4th-5th decades
3:1 female predilection
Simple excision curative
