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David E. Karas MD Connecticut Pediatric Otolaryngology Yale New Haven Children’s Hospital Yale School of Medicine.

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Presentation on theme: "David E. Karas MD Connecticut Pediatric Otolaryngology Yale New Haven Children’s Hospital Yale School of Medicine."— Presentation transcript:

1 David E. Karas MD Connecticut Pediatric Otolaryngology Yale New Haven Children’s Hospital Yale School of Medicine

2  Speaker’s Bureau for Alcon

3  Major  Significant functional or cosmetic impact  Heart defect, abnormal brain formation, cleft lip/palate  Minor  No major functional or cosmetic impact

4  Environmental (Teratogenic)  Alcohol exposure  Chromosomal  Single gene  Multiple gene

5  Sequence  Multiple defects from a single malformation  Pierre Robin  Syndrome  All components are pathologically related  Trisomy 21 or Fetal Alcohol  Association  Occur together more frequently  VATER/VACTERL  CHARGE

6  Branchial cleft sinuses  Hearing Loss  Sensorineural but may be mixed  Renal Dysplasia (12-20%)  Autosomal Dominant  1 in 40,000 Births  Variable penetrance  Associatied with 8q  Facial Palsy/Lacrimal duct

7  Autosomal Dominant  1 in 50,000 births  5q  Abnormal structures of 1 st and 2 nd Branchial arches, grooves and pouch.  Small, absent, or low set ears  Micrognathia  Cleft Palate (35%)  Normal Intelligence

8  Malar Hypoplasia  Down-slanting palpebral fissures  Absence of lower eyelashes  Atretic External Auditory Canals  Conductive Hearing Loss  Normal cognition and development  Localization to 9q  Limb abnormalities, particularly  absent thumbs

9  High Arched/Cleft palate  Broad nasal root  Cognitive impairment  Cardiac anomalies  Velopharyngeal Insufficiency (VPI)  Immunologic deficiencies  22q11 deficiency, Autosomal Dominant  Feeding difficulties  Hypocalcemia

10  Trisomy 21  Stenotic ear canals/Low set ears  COME/Eustachian tube dysfunction  Middle ear anomalies  Delayed Speech  Obstructive Sleep Apnea  Macroglossia  Narrowed subglottis/trachea  Cardiac defects

11  Lysosomal Storage Disease  7 distinct types  Hurlers, Hunters, Sanfillipo  Morquio, Maroteaux-Lamy  Coarse facial features  AIRWAY ISSUES!!!!!  Obstructive Sleep Apnea  Enzyme Replacement for  types I,II, and VI

12  Coloboma  Heart Anomalies  Atresiae Chonae  Retardation  Genital Anomalies  Ear Anomalies  ~60% defect of CHD7 gene(chromosome 8)

13  Vertebral Anomalies  Anal  Cardiac defects  Tracheo-esophageal Fistula  Renal/Radial anomalies  Limb defects  No specific genetic pattern or inheritance  Incidence 16/100,000

14  Midface Hypoplasia  Cleft palate (Pierre Robin)  Depressed Nasal Bridge  Hearing Loss (15%)  Dental Anomalies  Mitral Valve Prolapse  Genetic Sequencing is available  Joint dysplasia/ hyperextensibilty

15  Immotile Cilia  Situs Inversus  Sinusitis  Bronchitis/bronchiectasis  Otitis Media  Autosomal Recessive  Genetically heterogenous

16  Crouzon’s  Midface hypoplasia, coronal suture synostosis  Apert’s  Bicoronal synostosis, midface hypoplasia, orbital hypertelorism, polydactyly  Saethre-Chotzen  Bilateral coronal synostosis, variable midface hypoplasia, low set hairline, cleft palate  Pfeiffer  Multiple types with synostosis  and most with limb abnormalities

17  More prevalent than you think  Look for abnormalities minor malformations may indicate that major ones may also exist  More than one family member may be affected  Identification should not be underestimated  Better care  Better counseling  Better Surveillance

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