DOWN SYNDROME (DS)—-G TRISOMY 21 (OR 22)
DOCUMENT KARYOTYPES—COUNSEL PARENTS GENETICALLY AND SUPPORTIVELY
GET TSH, ASSESS BOWEL PATENCY
MAY BE AIDED BY SOME VITAMIN THERAPIES—LOOK INTO THIS
1/600 LIVE BIRTHS
95% FROM NONDISJUNCTION IN THE OVUM—–RISK INCREASES LOGORYTHMICALLY WITH MOTHERS AGE
4% FAMILIAL—PARENT IS CARRIER OF A ROBERTSONION TRANSLOCATION
1% MOSAIC
MR—WILL NEED SEDATION FOR ADEQUATE EXAMINATION
SHORT STATURE, BRACHIOCEPHALY, FLAT OCCIPUT
CONG HIP DISLOCATION IS COMMON
MONGALOID (SLANTED) EYES, EPICANTHAL FOLDS
STRABISMUS, NYSTAGMUS
BRUSHFIELD SPOTS
—-SPECKLED IRIDES
INCREASED RISK FOR CONG CATARACTS
AGGRESSIVE DENTAL CARE IS INDICATED
MONITOR FOROBESITY–INCREASED APPETITE AND FOOD AS REWARD SYSTEM
LYMPHOID HYPERPLASIA
INCREASED RISK FOR LYMPHORETICULAR MALIGNANCY –LEUKEMIA—GET CBC WITH PBS
AQUIREDHYPOTHYROIDISMIS COMMON—GET TSH
PRIMARY CAUSE OF DEATH—-ENDOCARDIAL CUSHION DEFECTS—COMMON A-V CANAL
SUBGLOTTIC OR TRACHEAL STENOSIS—-COMPLETE TRACHEAL RINGS
ATLANTO-AXIAL INSTABILITY
—-SUBLUXATION—-GET APPROPRIATE X-RAYS—-PRE-OP FLEXION EXTENSION SERIES—-CAREFUL IN LINE INTUBATION AND INTRA-OP MANAGEMENT OF NECK—COULD LEAT TO GAIT ABNL AND COORDINATION PROBLEMS ESPECIALLY AFTER HEAVY ACTIVITY
HYPOPLASTIC OR ABSENT FRONTALS AND SPHENOID
HYPOPLASTIC EAC—INCREASED CERUMEN PRODUCTION——GRIND TEETH WHEN CLEANING EARS
INCREASED CHL AND SNHL—-GET ABR AND OAE’S IF INDICATED
ETD—-OME—AOM
—-BENEFIT FROM T-TUBES OR SMALL SPECIALTY TUBES (X0MED 10-56159)—MAY NEED TO USE A SMALL BEAVER BLADE (5910) AND USE A STRAIGHT PICK
EXT EAR ICHTHYOSIS (SCALINESS), XEROSIS (DRYNESS), AND ECZEMA
SMALL ORAL CAVITY (MICROGNATHIA)—-LARGE TONGUE (MACROGLOSSIA)
GENERALIZED PHARYNGEALHYPOTONIA—POOR LES AND UES TONE—–GERD
SMALLER SUBGLOTTIS—RECURRENT CROUP AND DIFFICULTY WITH INTUBATIONS AND POST INTUBATION INJURIES
OSA-
—PULM ARTERIAL HTN—-COR PULMONALE—-GET PSG
DUODENAL ATRESIA
(DOUBLE BUBBLE)
HIRSHPRUNGS DISEASE
PTYLISM (SIALORHEA)
CONG OSSICULAR DEFORMITY—FUSED FOOT PLATE—MAY BENEFIT FROM STAPES MOBILIZATION
MASTOID HYPOLATIA (ETD)
SIMEAN CREASE (PALMAR)