genety eddie medi .pdf

SNHL PENDRED Conductive losses : PAGETS STICKLER OI NF2 WAARDENBURG...

SNHL PENDRED Conductive losses : PAGETS STICKLER OI NF2 WAARDENBURG PAGETS ALSTROM DFNA1 BOR JERVELL DFNB59 CROUZON BIOTINADASE DFNB1 CHARGE USHER TREACHER COLLINS ALPORT A patient with OI will present short stature, blue sclera, dentogenesis imperfecta, brittle bones, abnormal bone structure, triangular face and a conductive loss that turns into a mixed loss later in life. An affected individual will likely be seen in every generation. AUTO DOM. One parent will be affected. A patient with PAGETS disease will demonstrate pelvis or hip pain, bowing of limbs, spine pain, numbing of limbs, overgrowth of jaw or skull, and a low frequency conductive loss/ high frequency SNHL. An affected individual will likely be seen in every generation AUTO DOM A patient with neurofibromatosis type 2 will exhbit bilateral schwannomas, possible meningiomas, tinnitus, and dizziness. Affected individuals will be seen in every generation. AUTO DOM. One parent will be affected. A patient with Stickler syndrome will present with midface hypoplasia, retinal detachment, cleft palate, or joint hypermobility. They will have bilateral high frequency losses. Every generation is likely to be affected. One parent will be affected. A patient with Waardenburg is likely to exhibit mild to profound SNHL, white forlock, pigmentation abnormalities, heterochromia. It is likely to be seen in every generation. AUTO DOM. One parent will be affected. A patient with Treacher collins will have underdeveloped face. Downward slant in eyes. Small falt cheekbones. Cleft palate. Anotia, atresia, microtia. An affected individual will likely be in every generation. AUTO DOM. One parent will be affected. A crouzon affected patient will likely exhibit ATRESIA, craniosynotosis, beaked nose, forward jaw and a conductive loss. Likely to be in every generation. AUTO DOM. One parent will be affected. A patient with BOR will likely have deficits in ears, kidney, and neck. (branchio oto renal). Also may have cataracts, prearuricular pits and tags, branchial fistulas. Conductive loss or mixed loss. One parent will be affected A patient with DFNA1 will have non syndromic presentation of SNHL. One parent will be affected. A patient with A1555G will have sensitivity to aminoglycosides and a SNHL. It transmits through autosomal DOM A patient with ALSTROM will pass the NBHS, but develop progressive SNHL. They will also exhibit features such as vision loss, obesity, diabetes, and renal abnormalities. This is passed through recessive manner where both parents must pass on the mutation. However, both parents may not demonstrate clinical features. Look up in the pedigree to see if another family member is affected on BOTH sides, or check for consanguinity. A patient with jervell lange and nielson will demonstrate congenital bilateral SNHL, long QT intervals, heart problems, fainting spells and seizures. It is autosomal recessive and would be passed by both parents being carriers. However, both parents may not demonstrate clinical features. Look up in the pedigree to see if another family member is affected on BOTH sides, or check for consanguinity. A patient with biotinadase deficiency would show progressive SNHL, seizures, optic atrophy, skin rashes, breathing problems, and even death if not treated. It is autosomal recessive. However, both parents may not demonstrate clinical features. Look up in the pedigree to see if another family member is affected on BOTH sides, or check for consanguinity. A patient with pendred would demonstrate progressive SNHL, vestibular dysfunction, and thyroid abnormality. Both parents would need to be carriers. However, both parents may not demonstrate clinical features. Look up in the pedigree to see if another family member is affected on BOTH sides, or check for consanguinity. A patient with GJB2/DFNB1 will have non syndromic presentation of SNHL. Severe to profound bilaterally. SNHL. Both parents may be carriers while not presenting clinical features. Look upwards in pedigree to see where affected members are. Check for consanguinity. A patient with DFNb59 will have SNHL and auditory neuropathy spectrum disorder with abnormalities in signal transmission. Both parents may not demonstrate clinical features. It is an AUTOSOMAL RECESSIVE non syndromic condition. A patient with USHER syndrome is likely to exhibit vestibular dysfunction, SNHL, retnis pigmentosa, and tunnel vision. Both parents will be carriers. However, both parents may not demonstrate clinical features. Check upwards in the pedigree. Check for consanguinity. A patient with alport will have kindey problems. Hematuria. Proteinuria. Retinal flecks. And a progressive HL. Most likely it is X linked and the males are affected predominantly. Sons have a 50% chance of being affected by the mutation in the gene while females have a 50% chance of being carriers. Look for disproportionate transmission. Look for consanguinity.