PREVOCATIONAL AND GENETIC HEARING LOSS—DANIEL TODD, MD
PEDIATRIC/PREVOCATIONAL HEARING LOSS =CONGENITAL AND EARLY ONSET DEAFNESS
-4000 NEWBORNS BORN PROFOUNDLY DEAF / YEAR; 37000 WITH SIGN. HEARING LOSS; 6/1000
CAN PROBABLY IMPLANT THEM PRELINGUALLY BEFORE AGE 8—HAVE THE NEURONAL PLASTICITY TO ACHEIVE OPEN SET SPEECH DISCRIMINATION
PROBABLY SEND ALL THESE KIDS FOR OPHTHO CONSULT
NON-GENETIC HEARING LOSS—-50%
CAVEATE—THE “U” SHAPED OR COOKIE BITE CONFIGURATION LINKED TO NONSYNDROMIC HEREDITARY HEARING IMPAIRMENT PROBABLY HAS LITTLE SIGNIFICANCE
IDIOPATHIC–25%
SECONDARY–25% (TORCHES, OTOTOXICITY, TRAUMA, ANOXIA)
GENETIC HEARING LOSS—-50%(2/3 NON-SYNDROMIC)
AUTOSOMAL DOMINANT—-10%—-USUALLY PROGRESSIVE—OFTEN LOWER FREQUENCY
INNER EAR DYSMORPHOGENESIS—-NORMALLY COCHLEA HAS 2 3/4 TURNS BY THE EIGHT WEEK-AN ABNORMALITY OCCURS IN 20% OF CONGENITAL SNHL AND 65% OF THESE HAVE BILATERAL DZ (PRIMARY ABNL IS IN THE LAT SCC)
BONEY ABNL SEEN ON CT SCAN
-MICHEL(-ALEXANDER) APLASIA – AUTOSOMAL DOMINANT; NO LABYRINTH DEVELOPMENT; EAC AND ME NL; PT HAS   ANACUSIS; STANDARD AMPLIFICATION AND COCHLEAR IMPLANTS ARE NOT USEFUL BUT VIBROTACTILE DEVICES MAY BE OF SOME BENEFIT
-MONDINI APLASIA – AUTOSOMAL DOMINANT; ONLY BASAL TURN OF COCHLEA DEVELOPS AND REMAINDER OF COCHLEA AND VESTIBULE ARE UNDERDEVELOPED; PRONE TO PERILYMPH GUSHERS AND RECURRENT MENINGITIS;     SECOND MOST COMMON INNER EAR ABNL—2ND TO SCHIEBE’S;  AMPLIFICATION USEFUL; ASSOCIATED WITH PENDRED, WAARDENBURG, TREACHER COLLINS, AND WILDERVAANK
INTEGUMENT ABNL
-WAARDENBURG    – 3% OF CHILDHOOD HEARING LOSS
– UNI-: BI- 80%:20%
– PIGMENT DEFECTS IN 20-30%; WHITE FORELOCKS, HETEROCHROMIC IRIDIES—USUALLY BLUE,   PREMATURE GRAYING, VITILIGO, UNI BROW (SYNBLEPHARON)
-TYPE I – DYSTOPIA CANTHORUM
-TYPE II – NONE
– ? OF CHROMOSOME 2 ABNL
-NEUROFIBROMATOSIS
-CAFE -AU-LAIT SPOTS
– FIBROMATOUS TUMORS ( MOSTLY CUTANEOUS BUT CAN AFFECT CNS,  PNS, OR VISCERA)
– TYPE I  – VON RECKLINGHAUSEN’S – LARGE CAFE-AU-LAIT SPOTS,                        CUTANEOUS FIBROMAS, AND 5% WITH UNILATERAL ACOUSTIC  NEUROMAS
– TYPE II – 95% WITH BILATERAL ACOUSTIC NEUROMAS AND MINIMAL CUTANEOUS MANIFESTATIONS; ASSOCIATED WITH CHROMOSOME 22
LEOPARD/LENTIGINES= LENTIGINES (80%)-SPARE MUCOSAL SURFACES, EKG ABNL, OCULAR HYPERTELORISM, PULMONIC STENOSIS, ABNL GENITALIA, RETARDED GROWTH, DEAFNESS (25% SNLHL)—-WINGED SCAPULAE, MENTAL RETARDATION, PTYRIGIUM COLLI (WEBBED NECK LIKE TURNERS)
ALBINISM
FORNEY’S
SKELETAL
-STICKLER (ARTHRO-OPHTHALMOPATHY)—-FLATTENING OF THE FACIAL PROFILE    -SNHL OR MIXED HL IN 15%
-SMALL JAW (MICROGNATHIA) AND SOME HAVE PIERRE ROBIN (CLEFT PALATE)
-MYOPIA—–RETINAL CHANGES–DETATCHMENT AND CATARACTS—-GET OPTHO CONSULT ON ALL OF THESE AS WELL AS ALL PIERRE ROBIN PTS
-ARTHRITIS AT AN EARY AGE
-SPONDYLOEPIPHYSEAL DYSPLASIA
-TREACHER COLLINS (MANDIBULOFACIAL  DYSOSTOSIS)—-NL INTELLIGENCE (KID ON BARNEY)        – BILATERAL MICROTIA AND AURAL MEATAL ATRESIA
CHL IN 30%, BUT MAY HAVE SNHL OR VERTIGO
– HYPOPLASTIC MANDIBLE AND MAXILLA—”FISHMOUTH”
BILATERAL COLOBOMAS OF THE LOWER EYELIDS AND ANTIMONGOLOID SLANTING PALPEBRAL FISSURES
-CROUZON’S    -SEVERE NONSPECIFIC OTOLOGIC ABNL-MIDFACE HYPOPLASIA-PARROT BEAKED NOSE
SYNOSTOSIS
OCULAR HYPERTELORISM
-APERT’S–ACROCEPHALOSYNDACTALY–FRONTAL PROMINENCE–CRANIFACIAL DYSOSTOSIS—LOW SET EARS—HIGH ARCHED PALATE—MR—HYPERTELORISM—FLAT CHL SECONDARY TO STAPES FIXATION
-ACHONDROPLASIA—MIXED LOSS
-MARFAN’S—ARACHNODACTALY, ECTOPIA LENTIS, MIXED HL
-PAGET’S
-PIERRE-ROBIN—CONSIDER STICKLER AND RP
-OSTEOGENESIS IMPERFECTA—VAN DER HOEVE DE KLEYN—-BLUE SCLERA, FRAGILE BONES CHL
MOBIUS–FACIAL DIPLEGIA–LR PAULSEY–MIXED HL
OPITZ
MOBIUS
RENAL
BRANCHIAL-OTO-RENAL    – PRE AURICULAR SKIN EAR PITS, SKIN TAGS, AND/OR BRANCHIAL CLEFT CYS- RENAL DYSPLASIA OR AGENESIS
HEARING LOSS – MAY BE SN, C, OR MIXED—MOST COMMON TRAIT
SIMILAR AG OF THE STRIA VASCULARIS AND RENAL GLOMERULI
ALPORTS (ALSO X-LINKED)
AUTOSOMAL RECESSIVE—-90%—-NON-PROGRESSIVE    —OFTEN HIGHER FREQUENCY
INNER EAR DYSMORPHOGENESIS    -NORMALLY COCHLEA HAS 2 3/4 TURNS BY THE EIGHT WEEK–AN ABNORMALITY OCCURS IN 20% OF CONGENITAL SNHL AND 65% OF THESE HAVE BILATERAL DZ
NOT VISIBLE ON CT SCAN
SCHEIBE APLASIA – COCHLEO-SACCULAR APLASIA—-ABNORMAL MEMBRANOUS PARS INFERIORIS WITH NL MEMBRANOUS  PARS SUPERIORIS AND BONY LABYRINTH; MOST COMMON INNER EAR ABNL; CONVENTIAL AMPLIFICATION USEFUL; ASSOCIATED WITH JERVEL AND LANGE-NIELSEN, REFSUM,  USHER, AND WAARDEN BURG
-ALEXANDER APLASIA – HIGH FREQUENCY SNHL WITH APLASIA OF COCHLEAR  DUCT; CONVENTIAL AMPLIFICATION USEFUL—SNHL
-BING-SIEBENMANN -NL BONY LABYRINTH BUT MEMBRANOUS LABYRINTH AND POSSIBLY   MEMBRANOUS COCHLEA ABNL
-ENLARGED VESTIBULAR AQUEDUCT – (IS THE BONEY OUTFLOW FROM THE OTIC CAPSULE FOR THE ELS) SNHL, THAT IS USUALLY BILATERAL, ASSOCIATED WITH VERTIGO; SHUNTING DOES NOT HELP—-TELL PTS TO AVOID HEAD TRAUMA—–CAN SEE THIS ON CT SCAN
INTEGUMENT ABNL:
PIEBALDNESS (TYPE II WARDENBURGS)—AREAS OF DEPIGMENTATION—-50% SNHL
OCULAR ABNL:
-USHER- SNHL AND RETINITIS PIGMENTOSA
4% OF ALL CONG DEAFNESS
10% OF ALL HEREDITARY DEAFNESS
– AFFECTS ½ OF BLIND/DEAF PEOPLE IN THE USA
– TYPE I – CONGENITAL BILATERAL SEVERE SNHL AND NO VESTIBULAR FXN – 90%
– TYPE II – MODERATE SNHL AND NL VESTIBULAR FXN – 10%
TYPE III-AFTER PUBERTY – 1%
-HALLGREN’S = TYPE I USHERS & ATAXIA – 5% OF ALL HEREDITARY DEAFNESS
-LAWRENCE-MOON-BIEDL–RP, DWARFISM, OBESITY, HYPOGONADISM, MR, AND SNHL
STORAGE DISEASES:
-REFSUM’S—-PHYTANIC ACID BUILDUP—RP—SNHL—CAN HAVE QT PROLONGATION ON EKG
-HURLER’S(GARGOYLISM—L-IDURONIDASE DEFIECEINCY) +PAS, ALDER BODIES, CORNEAL CLOUDING
SKELETAL ABNL:
-NAGER    (ACROFACIAL DYSOTOSIS)    -OTOLOGIC ABNL SIMILAR TO TREACHER-COLLINS
-PRE-AXIAL RADIAL UPPER LIMB DEFECTS
-OTOPALATODIGITAL
-OSTEOPETROSIS (ALBERS-SCHONBERG/ MARBLE BONE Dz)
-KLIPPEL-FEIL – KLIPPEL-FEIL FUSED CERVICAL VERTEBRAE, SN-/MHL, AND CN 6 PARALYSIS (BREVICOLLIS)
-OTO-PALATAL-DIGITAL- HYPERTELORISM, FACIAL ABNL, CLEFT PALATE, SHORT STATURE WITH  SMALL BROAD FINGERS AND TOES, AND CHL ASSOCIATED WITH   DEFORMED OSSICLES
HEARING LOSS MAY BE AMENDABLE TO SURGERY
-MOHR’S–OTOFACEAL DIGITAL SYNDROME
-WILDERVAANK     – FEMALES ONLY, MALES DIE
OTHER:
-PENDRED- SNHL (U SHAPED AUDIO) ASSOCIATED WITH ABNORMAL I2 METABOLISM WHICH LEADS TO A  EUTHYROID GOITER
– PTS HAVE AN ABNL PERCHLORATE TEST—-FAULTY IODINATION OF TYROSINE
TX – THYROID REPLACEMENT
-JERVELL AND LANGE-NIELSEN- SNHL ASSOCIATED WITH SYNCOPAL EPISODES RELATED TO CARDIAC CONDUCTION DEFECTS (PROLONGED QT INTERVAL)- TX – B-BLOCKERS—-CONSIDER IN SIDS
GOLDENHAR (HEMIFACIAL MICROSOMIA)—-OCULO- AURICULOVERTEBRAL DYSPLASIA)—–MICROTIA—-PROBABLY SPORATIC INHERITANCE
-HEMIFACIAL MICROSOMIA -MALFORMED OR ABSENT AURICLE AND ATRETIC EAC
-MANDIBULAR HYPOPLASIA
-COLOBOMA OF UPPER EYELID
-CAN HAVE CONGENITAL FACIAL PARALYSIS
-FANCONI
SEX  LINKED
-ALPORT     X-LINKED DOMINANT—-MEN USUALLY DIE OF THIS AND WOMEN ARE LESS SEVERELY AFFECTED
SNHL AND RENAL DZ (PROGRESSIVE NEPHRITIS)—ABNL TYPE IV COLLAGEN—-ABSENT BASEMENT MEMBRANE
ALSO HAVE OCULAR DEFECTS—LENTICONIA (CONICAL LENS)
Rx = RENAL TRANSPLANT—-MAY REVERSE THE SNHL
-HUNTERS
-USHER’S TYPE 4
TURNER’S
-NORRIE – CONGENITAL RAPIDLY PROGRESSING BLINDNESS, PSEUDOGLIOMA, OPACIFICATION, AND  MICROOPHTHALMIA ASSOCIATED WITH SNHL IN1/3
SYSTEMATIC ASSOCIATION BREAKDOWN
-ABNL CBC    -FANCONI’S ANEMIA, LEUKEMIA
-ABNL UA    -BOR,-ALPORTS, WEILS
-ABNL CT SCANS    -MICHEL,-MONDINI, VESTIBULAR AQUEDUCT SYNDROME
-ABNL THYROID    -PENDRED’S (PERCHLORATE)
-ABNL SEROLOGY    -TORCHES, SYPHILIS
-ABNL EKG    -JERVELL AND LANGE-NIELSEN,-LEOPARD, RUBELLA
-ABNL AURICLE    -BOR,-GOLDENHAR, -TREACHER COLLINS
-ABNL EYE    -RP -USHERS, HALLGRENS, REFSUMS, LAWRENCE-MOON-BIEDLE
-CATARACTS -ALPORTS, STICKLER, RUBELLA
-ABDUCENS PALSY -MOBIUS
-ABNL PIGMENT -OI, WAARDENBURG’S, PIEBALDNESS
INTERSTITIAL KERATITIS–COGAN’S, SYPHILIS
-ABNL KARYOTYPE -TRISOMIES AND TURNER’S