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Congenital syndrms
CMI - Fall 2011
| Question | Answer |
|---|---|
| What is the MC type of inherited hearing loss? | Autosomal Recessive (75%) |
| How many ppl will have sensorineural hearing loss by age 55? | 1 in 5 |
| What are some head/facial differences in people with Down Syndrome? | Small head for age, flat facial profile, slighly flattened bridge of nose, small nose |
| What are some ear differences in ppl w/Down Syn? | Small, lowset on head, may fold over a bit on top, small ear canals; Very susceptible to ear infex and at ^d risk for hearing loss due to constant fluid in middle ear |
| What are some eye differences in people with Down Syndrome? | Upward slant, epicanthal folds, Brushfield's spots |
| What are the light spots on the irises of the eyes of some ppl w/ Down Syn called? | Brushfields's Spots |
| What are some mouth differences in people with Down Syndrome? | Dental abn, small mouth, low roof of mouth (palate), tongue may appear lg in relation to mouth, may see cleft lip/palate |
| What are some hand differences in people with Down Syndrome? | small, wide, simian crease, pinky fingers curve inward |
| What is a Simian Crease? | A SINGLE crease across the palms in those w/ Down syndrome (instd of ONE) |
| Why do those with Down syndrome rarely live beyond 60 y.o? | Alzheimer-type dementia usually develops in the 4th or 5th decade of life |
| What is most common -- Cleft lip AND palate, cleft lip, cleft palate? | Cleft lip AND palate (50%) |
| What is it that causes the cleft lip/palate? | Plates failing to fuse (at wk 6-11) |
| Genetic component of cleft lip/palate? | Autosomal dominant (usually) |
| Who is most at risk for cleft lip/palate? | Male, Asian, American Indian |
| What condition is assoc with a mutation of the gene that affects the type IV collagen family of proteins? | Alport's |
| Type IV collagen is a major part of important tissue structures called? | Basement membranes (present in all tissues) |
| Genetic component of Alport's? | 80% X-linked |
| M or F more affected in ALport's? | MALES |
| Kidney failure in the teen years is seen in which condition/inheritance route? | Alport's - X-linked, Recessive |
| Kidney failure that occurs in the 40's in those with Alports is usually d/t which inheritance pattern? | Dominant |
| Which kind of hearing loss may be assoc w/ Down syndrome? | Conductive HL |
| Which kind of HL may be assoc w/ cleft lip/palate? | Conductive HL |
| Which kind of HL may be assoc w/ ALport's? | SNHL (not present at birth-but develops in later childhood-b4 kidney failure) |
| Which syndrome is d/t a gene mutation during fetal dev't and involved in the production of 3 difft types of collagen-which impedes the devt of the collagen? | Stickler Syndrome |
| What is the major risk assoc with Stickler Syndrome? | Dislocation (d/t lax jts) |
| Which kind of HL is assoc w/ Stickler syndrome? | SNHL (worsens w/age) |
| What is another name for Oculoauricular dysplasia (OAV)? | Goldenhar Syndrome |
| How is goldenhar syndrome inherited? | Sporadically or Auto Dom |
| What is the devt issue with goldenhar syndrome? | Abn devt of 1st and 2nd branchial/pharyngeal arches, on ONE side of the face |
| MVP may be assoc w/ which condition? | Stickler syndrome |
| What kind of HL is assoc w/ goldenhar synd? | CHL |
| Hypoplasia of face, pinna, middle ear, preauric pits or tags, and congenital hrt dz are assoc w/ which condition? | Goldenhar syndrome |
| When can the jaw and pinna be fixed in someone w/ goldenhar synd? | Begin to fix: Jaw at age 3; Pinna at age 6 |
| Treacher collins synd involves an alteration in which chromosome? | 5 |
| HOw is treacher collins synd inherited? | Auto dom; 60% new mutations |
| What kind of HL is treacher collins synd assoc w/? | CHL (d/t malformed ears) |
| Hypoplasia of zygoma and mandible causing possible probs with eating/chewing/sucking is seen with which condit? | Treacher Collins synd |
| Those w/ treacher collins synd are usually of NL intell...they can outgrow their probs by? | Proper early nutrition, education, surgery |
| How does a conductive hearing aid work? | Sits on mastoid process and transmits sounds thru bone to get to nerve (bc nerve is working fine) |
Created by:
ferrier.kath
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