Down Syndrome

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)

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