Syndromes II Flashcards
What causes the tricho dento osseous syndrome?
DLX3 gene mutation
What is tricho dento osseous sydrome?
Main affectation of:
• Hair: curly
• Teeth (100%): enamel alterations and taurodontism
• Bone (93% in the skull) Increased density
What is treacher collins syndrome also known as? (2)
- Madibulofacial dysostosis.
- Franceschetti syndrome
What percent of people with treacher collins have mental disability?
5%
What is treacher collins syndrome? (5)
- downslating palpebral fissures
- coloboma of outer third eyelid
- aplasia or hypoplasia of malar bones
- deformed ear
- mandibular, maxilar, paranasal sinus and nasal hypoplasia
What dental malformations occur with treacher collins syndrome?
Frequent open bite assoicated with cleft palate
Treacher collins syndrome treatment? (3)
- Ortognatic surgery.
- Ortho treatment.
- Take into account cardiac congenital defects while doing dental treatments.
What are the different levels of affectation for otomandibular dysostosis? (3)
From only ear deformation to hemifacial microsomia or even goldenhar syndrome
What is hemifacial microsomia? (4)
- Part of otomandibular dysostosis
- Facial asymmetry
- mandibular hypoplasia
- macrostomia
What is goldenhar syndrome? (5)
- Part of otomandibular dysostosis
- hearing loss (30%)
- vertebral alteration
- heart alterations
- maxilar and malar hypoplasia
What is otomandibular dysostosis? (4)
• Usually unilateral (15%-30% bilateral) • Adjacent structures affected: congenital facial paralysis, muscle hipoplasia. • Agenesia or hypotrophy of the parotid gland. • Skin affected and subcutaneous cellular tissue retracted
What is the pierre-robin syndrome triad? (3)
- micrognathia
- cleft palate
- retroglossoptosis
Pierre-robin syndrome can be decribed as ____ face
bird
What is pierre-robin syndrome? (3)
• Alteration in breathing, with asfixia alterations and
difficulties in inspiration and many breathing
infections.
• Difficulties in eating
• Pierre Robin sequence
What is the first objective in treating pierre-robin syndrome?
Control pharyngeal obstruction
How does 1st objective treatment of pierre roin syndrome go? (5)
- Neonates in prone position
- Lingual traction with external points ??
- Tracheotomy
- Mandibular distractor
- Nasopharyngeal tube
What is the second objective in treating pierre-robin syndrome?
feeding
How does 2nd objective treatment of pierre roin syndrome go? (3)
• Nasogastric tube
• Special teats
• Additional contributions: great energy expenditure
due to respiratory demand.
What is osterogenesis imprefecta?
• Alteration in the collagen maturation.
• Bone fragility, blue esclerotica, hearing alterations and dental
alterations.
• Bulging skull
What dental alterations occur with osteogenesis imperfecta? (9)
• Tooth color between translucent blue and
dark brown with an opalescent tone.
• Teeth with normal shape and structure when
erupting.
• Normal chewing function produces extreme
vertical dimension loss.
• Greater involvement of temporary dentition
and of permanent teeth that erupt before.
• Bell-shaped crowns
• Obliteration of pulp chambers
• Short, blunt roots
• Low susceptibility to decay
• Great restriction
What is acondroplasia? (5)
• Dwarfism with short limbs. • Big skull vault, frontal and occipital protuberances • Short nasal bones, deformed and depressed • Hypoplasic maxilar with normal mandible——> Prognatism • Alteration of the cartilage
anhidrotic ectodermal dysplasia inheritance?
Sex
What is the ectodermal dysplasia triad?
- Hypohidrosis
- Hypodonta
- Hypotrichosis
What is anhidrotic ectodermal dysplasia?
- frontal area bulging
- depressed nasal bridge
- prominent lips
- loss of the vertical dimension
What dental malformations occur with anhidrotic ectodermal dysplasia ? (3)
• Teeth with structural type anomalies (enamel), conical teeth • Atrophy of alveolar processes • Other: Atopic dermatitis, hypoganmaglobulinemia, palmoplantar hyperkeratosis
What type of inheitance does hypophosphatasia have?
recessive
*some forms are dominant
Papillon-lefevre syndrome inheritance?
recessive
What causes hypophosphatasia?
- ezymatic deficiency that produces a decrease of the
alcaline phosphatase. - leads to an irregular ossification of
the cartilage and bone
How frequent is hypophosphatasia?
1/100000 births
What is the treatment of hypophosphatasia? (3)
- phosphorus
- vitamine D
- parathormone
How many presentations of hypophophatsaia are there?
4
- neonatal
- infantile
- childhood
- adult
When does infantile hypophophatasia occur?
First 6 months of life
What are the symptoms of infantile hypophosphatasia? (6)
- Craniosynostosis
- short height
- convulsions
- arched legs
- mental disability (intracraneal HT)
- premature loss of the
teeth
50 % of cases of infantile hypophosphatasia death is caused by…
breathing failures
Hypophosphatasia childhood presentation? (3)
- Different levels of severity:
from dental anomalies to presentation similar to
rickets. - Delayed eruption and premature loss of the dentition.
- Alveolar destruction and widening of the pulp chambers.
Hypophosphatasia adult presentation? (2)
- bone demineralization
- fractures
How common is papillon-lefevre syndrome?
1-3/1,000.000 births
When does papillon-lefevre syndrome appear?
first three years of life
Why does papillon-lefevre syndrome occur? (3)
Alteration of chromosome 11 and mutations of 12 and 17
What is papillon-lefevre syndrome? (3)
- Hyperqueratosis in hands and feet, with rashes and painful fissures.
- Hypohidrosis
- Repetative infections in the skin and organs (alteration of the neutrofils)
Dental abnormalities in papillon-lefevre syndrome?
• Advanced periodontitis, premature exfoliation of the primary dentition
(3-4 years) and permanent dentition (14 years old).
• Dental caries. Frequently halitosis, ulcers and bleeding gums,
premature tooth loss
• Debut for hyperkeratosis or periodontal disease
Down-syndrome inheritance?
Autosomal anomaly
Why does down syndrome occur?
trisomy of chromosome 21
What occurs with down sydrome? (3)
• Mental disability
• Periodontal disease in 90% of the patients
• Heart alterations in 40% of the
patients
What craniofacial alterations do people with down syndrome have? (5)
- Brachicephalia with flat occipital
- Microcephalia
- Brushfield spots in the iris
- Small nose with depressed bridge
- Internal epicanthic folds and mongoloid eyes
What oral alterations do people with down syndrome have? (12)
- Delayed dental eruption: 75% eruption of the first tooh at 9 months
- Agenesis (38,6-63%) The most affected tooth is the upper lateral incisor
- Microdontia: in permanent molars and premolars
- Hypocalcification of the enamel (20%)
- Taurodontism (36,4%)
- Big tongue with chelitis and protrusion. It may be also fissured (1/3 of cases)
- Bifid uvula
- Narrow palate
- Periodontal disease
- Open bite, anterior teeth crowding, posterior crossbite. Maxilar hypoplasisa, class III
