Common Otolaryngological Congenital Abnormalities Visual Synopsis of Classic Syndromes and Features Viet Pham, M.D. Lewis Hutchinson, M.D. Harold Pine, M.D. s Shraddha Mukerji, M.D. c im o The University of Texas c / te Medical Branch n . m Department of Otolaryngology s o lp x November 22, 2010 e .w w w / / : p t t h Foreword and Acknowledgements Special appreciation to Dr. Hutchinson for his  assistance and contribution Additional gratitude to Drs. Pine and Mukerji  All clinical photos are presented solely for educational  purposes All other photos were obtained via a Google search unless  otherwise specified and are used without permission Objective Highlight typical features of congenital abnormalities  evaluated in the otolaryngology practice Visual emphasis on classical presentation of commonly  encountered syndromes Down Syndrome (Trisomy 21) Extra chromosome 21  Meiotic nondisjunction in gamete formation  Mosaicism (1-2%)  Robertsonian translocation (2-3%)  Duplication (rare)  Increased risk with advanced maternal age  Most common cause of intellectual disability  Down Syndrome Features Brachycephaly  Flat nasal bridge and occiput  Small, low-set ears  Macroglossia, glossoptosis  Upslanting palpebral fissures  Epicanthal folds  Brushfield spots  Simian crease  Sandal gap deformity of feet  Excessive nuchal folds  Mental retardation  (courtesy of Dr. Hutchinson via Maria Blazo, M.D.) Down Syndrome Features Brachycephaly ) 9 0 0 2 ,v e h s im r u o Upslanting palpebral fissure D ( ) 9 0 0 Macroglossia, 2 ,v Epicanthus glossoptosis e h Flat nasal bridge, s im r hypoplastic maxilla u o D Microtic, low-set ears ( ) 9 0 0 2 ,v e h s im r u o D ( Excessive Brushfield spots Sandal deformity Simian crease nuchal folds Down Syndrome Other Features Muscular hypotonia  Strabismus  Congenital cataracts  Atrial or ventricular septal  defect Gastroesophageal reflux  Duodenal stenosis or  atresia Hirschsprung disease or  celiac disease Seizures  Down Syndrome Prenatal Ultrasound Absent nasal bones  First trimester (60-80%)  Second trimester (37-41%)  Hypoplastic nasal bones  Not useful as single marker in first  trimester Best used with absent nasal bones in  second trimester (60-100%) (Gonçalves, 2004) Down Syndrome Otolaryngological Considerations Tympanostomy tubes  Esophageal atresia,  tracheoesophageal fistula Atlantoaxial instability  Obstructive sleep apnea  Hypothyroidism  Increased risk for malignancy  Acute lymphoblastic leukemia  Transient myeloproliferative disorder  Crouzon Syndrome (Craniofacial Dysostosis) Autosomal dominant  Virtually complete penetrance  Mutation of fibroblast growth factor receptor II (FGFR2) on  chromosome 10 Affects first pharyngeal arch  Precursor maxilla  and mandible Early fusion of face  and skull bones (courtesy of Dr. Pine)