Quiz 3: Mucopolysaccharidoses (Hurler and Hunter)syndromes, Stickler Syndrome, fetal alcohol syndrome, neurofibromatosis type 2
Terms in this set (18)
Genetics and Hurler Syndrome
Genetics and Hunter Syndrome
Phenotype of Hurler Syndrome
-Individuals with this syndrome appear normal at birth, with clinical features becoming more apparent with age. Clinical manifestations include:
-progressive mental deterioration
-coarsening of facial features
-clouding of the corneas
-skeletal dysplasia with joint contractures
-thick coarse hair and bushy eyebrows
This severe form of MPS syndrome usually results in death in the second decade of life from heart failure and severe respiratory tract infections
Hearing loss and Hurler syndrome
-Some degree of conductive loss
-temporal bone studies show extensive mesenchyme-like tissue within epitympanum. Additionally the mucous membrane of the ME covered and blocked niches of both the oval and round window.
-incomplete development of ME structures
-high incidence of otitis media
Phenotype of Hunter Syndrome
- MPS II
-mild forms of this disease may survive into adulthood and exhibit no mental deficits (postnatal onset of coarsening of the face, swelling of the joints, cognitive deficiency and deterioration, and respiratory difficulties)
-Major systems affected:
central nervous system
Hearing and Hunter syndrome
-degree of HL typically not severe and may be conductive, sensorineural, or mixed, although profound sensorineural impairment has been reported in isolated cases
-as chronic congestion becomes more severe, conductive hearing loss occurs frequently with chronic middle ear effusion complicated by thickened secretions and "glue ear"
Hunter and Hurler syndrome are characterized as what syndrome?
Phenotype of Mucopolysaccharidoses syndromes (hunter and hurler syndrome)
-coarsening of facial features and unruly hair secondary to disturbed central nervous system development (hurler)
-hunter= milder clinical course than hurler syndrome. Abdomen enlarged secondary to hepatosplenomegaly and evidence of dysostosis multiplex
Speech and Hunter syndrome
-articulaton becomes sluggish because the tongue becomes enlarged and the palate and aveolar ridges thickened, preventing normal tongue placement and movement.
Stickler syndrome phenotype
Morphogenesis of collagen (a major component of cartilage and connective tissue)
-Major structures affected: craniofacial, ocular, growth, musculoskeletal
-depressed nasal root
-micrognathia (top row)
-wedged shaped epiphysis (at the ankle)
What is Stickler Syndrome?
one of the most common connective tissue dysplasias in humans and is most common syndrome that results in the robin sequence.
-this syndrome has many impacts on speech, feeding, and hearing.
Speech and Stickler syndrome
-articulation disorders secondary to malocclusion disorders are common
-micrognathia with or without anterior skeletal open-bite is common finding resulting in lingual protrusion distortions
Hearing and Stickler syndrome
-SNHL usually in the high frequencies is found in at least 15% of patients
-conductive loss secondary to chronic ME effusion is also seen in cases with cleft palate
Fetal alcohol syndrome
describes the range of effects that can occur in a person whose mother drank alcohol while pregnant. effects can include physical or mental disabilities and problems with behavior or learning.
Problems associated with FASD
-Problems with learning, memory, attention span, problem solving, speech, and hearing (both conductive and SNHL). They are at a very high risk for trouble in school, trouble with the law, alcohol, and drug abuse, and mental health disorders.
-can cause abnormal facial features and central nervous system problems
Neurofibromatosis type 2 phenotype
-cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter
-dysplastic tumore--cutaneous or subcutaneous; biopsy confirmation of neurofibroma
(scoliosis is also a relatively common musculoskeletal findnig)
Hearing and NF2
-Hearing impairment may accompany both the peripheral and central form of this. the most common form of HL associated with this is bilateral acoustic neuroma
-condition is a dynamic pathological process with physical manifestation often present at birth and becoming more prevalent with age.
-tumors commonly reported in 2 decade of life
-bilateral acoustic neuromas=hallmark
-patient with bilateral acoustic tumors typically complains of slowly progressive HL in both ears
-tinnitus may accompany HL
-BILATERAL SNHL And retrocochlear pathology
Genetics and NF2
Autosomal dominant trait
-perhaps 50% of cases are due to spontaneous mutation
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