Syndrome Flashcards
Eagle syndrome/stylohyoid/carotid artery
Enlogated styloid process or calcified stylohyoid ligament.
18-40 percent population. Vague facial pain on swallowing turning head and opening mouth.
Classical occur after tonsillectomy
Gorlin goltz / nevoid bcc syndrome
Mutation - PTCH GENE 9q chromosome
Multiple OKC
bifid rib
Multiple bcc
Palmer and planter pits
Lamellar calcification of falx cerebri
One of the first relation is also positive
Hand Schiller Christian disease ( langerhans cell histiocytosis) histiocytosis x
Bone lesions, exophthalmos, diabetes insipidus.
Floating teeth
Langerhans cells with birbeck granules
Kindler syndrome
Rare subtype of epidermolysis bullosa
Autosomal recessive congenital acral blistering
Photosensitivity
Poikloderma
Diffuse cutaneous atrophy
Mucosal manifestation including oral git
Rubenstein taybi syndrome
Talons cusp
Broad thumbs great toe
Characteristic facial features
Dealyed or incomplete descent of testes in male
Short stature
Mohr syndrome/oro facial digital syndrome
Talons cusp
Midline cleft lip
Fissured tongue/ poly lobulated
Additional digit/ polydactyly
Tricho dento osseous syndrome
Curly kinky hair
Taurodontism, enamel hypoplasia
Thickening of frontal bone
Focal epithelial hyperplasia/ hecks disease
Abnormal thickening of mucosa 10 times
HPV 13 &32
Severe acanthosis but no exophytic growth
H/F - Nuclear changes seen resembles mitosis
Cells infected by virus - mistoid cell
Pypstomatitis vegetans
O/m of crohn’s disease and ulcerative colitis
Cobblestone appearence
Cerebriform tongue
Cowden syndrome
Multiple harmatoma syndrome
PTEN GENE CHROMOSOME 10
Autosomal dominant
Facial trichilemmonas ( hair follicle like tissue)
Multiple papules and fibromas in oral cavity
Acral keratosis
Cns thyroid git mucoskeletal abnormalities
Considered as cutaneous marker in breast cancer
Melkersson rosenthel syndrome
Facial paralysis
Fissured tongue
Chelitis granulomatous
Pierre robin / bilateral TMJ syndrome
Bird face
Hypoplastic mandible
Cleft palate
Glossoptois
Obtuse gonial angle
Occurs isolated or with -
Stickler syndrome
Velocardiofacial syndrome
Treacher Collin
Foetal alcohol syndrome
Parry romberg syndrome
Facial hemiatrophy
Coup de sabre
Vander woude syndrome/ dimpled papillae of lip
Autosomal dominant
Irf 6 - 1q32. Genes get deleted
Grhl 3 grainy head like 3 17p11
Lip pits
Cleft lip/ palate
Syndrome a/w macroglossia
Down’s
Beckwith Weidman syndrome - organomegaly
Macroglossia
Red birthmark on forehead/ eyelid
Large size of new born
Treacher Collin / madibulofacial dysostosis / franchesti zwahlen Klein syndrome
Autosomal dominant
TCOF1 GENE
DECREASE neural crest cells migrating into developing cranio facial complex
1st and 2nd pharyngeal arch
Antimonglpid palpebral fissure
Coloboma of lower eyelid
Hypoplasia of facial bones especially malar and mandible ( bird like )
Malformation of external 👂
Macrostomia
High palate with or without cleft patr
Blind fistulas bte angle of ear & mouth
Atypical hair form
Facial clefts salivary gland aplasia
Sleep apnea
Ascher syndrome
Acquired double lip
Blepherochalasis - drooping of the tissue btw the eyebrow and edge of upper eyelid.
Non toxic thyroid goitre
Peutz jegher syndrome/ intestinal heriditery polyposis
Autosomal dominant
STK 11 GENE ( serine thionine kinase gene)
Perioral melanosis ( cafe au lait spots )
GIT POLYPS
CHANCE OF malingnancy× 15
Marteaux lamy syndrome
Lysosomal storage disease
Type of mucopolysaccharides is type 4
Deficiency of enzyme - aryl sulphatase B
Collection of mucopolysaccharides
C/f - multiple/ bilateral dentigerous cysts
Stunted growth
No mental retardation
Constricted chests
Sturge Weber syndrome
Port wine stain
Calcification of falx cerebri
Tram track appearence of skull
Von recklinghausens disease of skim
Multiple neurofibromatosis
Type 1
Neurofibromim gene
Chromosome 17
Type 2
Chromosome 22 Merlin/schwannomin gene
C/F hangingass
Bag of worm appearance
Elephant man syndrome
H/f plexiform type
Cafe au lait spots
Freckles in axillary areas - crows sign
Melanocytic hamartosis - in eyes - lisch nodules
Optical gliomas
Sarcoidosis / Bernier Boeck schaumann disease
Mutisystem. Lungs skin bones lymphnodes involved
Increase in ACE INHIBITORS
KVIEM SILTZBACK TEST - diagnostic test
H/F - noncaseating granulomas present
Langhams and foreign body giant cells
Inclusion bodies within giant cells - schauhann bodies ( basophillic lysosomal calcification
Star shaped asteroid bodies
Heerfordt waldenstorm syndrome/ uveparotid fever
Type of sarcoidosis
Enlargement of parotid
Facial nerve paralysis
Inflammation of uveal tracts of eye
Trotter syndrome/ Nasopharyngeal tumour
Pain in the region of trigeminal nerve
Pain in lower jaw tongue and side of head.
Middle ear deafness
Asssymetry and defective mobility of soft palate
Trismus of medical pterygoid
Acrodynia/ pink disease/ Swift disease
Murcury toxicity
Chronic murcury exposure - infants and children<2 yrs
Tachycardia
Hypersalivation
Exfoliation of teeth
Metallic taste
Haairfall ( patches)
Triad of red painful desquamting fingers and toes ( pink disease
Hypertension
Neurological symptoms
Erythesim - neurological symptoms in adults in chronic hg poisioning
Mad as a hatter
Plumbism
Lead poisioning
Peripheral neuritis - wrist drop and foot drop
O/m - burtonian line - pb sulphate, bluish blackish line on gingiva
Raeders syndrome/ paratrigeminal syndrome
Pain in the region of 5th nerve
Ocular sympathetic paralysis
Horner syndrome / sympathetic opthalmoplegia
Mitosis
Ptosis
Anhydrosis
Headache
In half of face
Sphenopalatine neuralgia
A/w vidian nerve
Alarm clock headache
No trigger zones associated
Cluster headache
Frey syndrome
Gustatory sweating
Diagnosis - minor strach iodine test
Multiple sclerosis
A/w trigeminal neuralgia
Charcot’s Triad
1. Intentional tremors
2. Nystagmus
3. Dysarthia
Marker’s jaw winking syndrome/ Trigeminal oculomotor synkinesis
Congenital unilateral ptosis
With rapid mandibular movement on contralateral side
Marin amar syndrome/ inverted marus gun phenomenon
On mandible opening - eye closes
Usually seen after peripheral facial paralysis
Hemifacial macrosomia
O ORBITAL DISTORTION
M mandibular hypoplasia
E ear anomaly
N nerve involvement
S soft tissue deficiency
