Dysmorphology assessment in neonates | Dysmorphic features
a congenital abnormality; growth abnormalities; dysmorphic features. Checklists below will assist with: taking a history and examining an infant with a ...SkiptomaincontentMainnavigationBreadcrumbHomeClinicalguidanceNeonatalDysmorphologyassessmentinneonatesDysmorphologyassessmentinneonatesSharethisSharethispageonTwitterSharethispageonFacebookSharethispageonLinkedinSharethispagebyEmailKeymessagesAdysmorphologyassessmentrequiresathoroughanddetailedphysicalexamination.Ancillaryinvestigationsmaybeuseful.Chromosomeandgenetictestsmaybewarrantedincertaincircumstances.Overcomeanyreluctancetodiscussyourassessmentwiththefamily,butmakesureyouusesensitivelanguage.OnthispageExaminationchecklistInvestigations-whentodowhat?CommunicationstrategieswithparentsMoreinformationPleasenotethatallguidanceiscurrentlyunderreviewandsomemaybeoutofdate.Werecommendthatyoualsorefertomorecontemporaneousevidenceintheinterim.Adysmorphologyassessmentofanewbornfocusesonaspectsofhistory,physicalexaminationandinvestigationsthatmayleadtoasyndromediagnosis.Thisassessmentshouldbecarriedoutonachildwithanyofthefollowing:acongenitalabnormalitygrowthabnormalitiesdysmorphicfeatures.Checklistsbelowwillassistwith:takingahistoryandexamininganinfantwithadysmorphologyfocusdescriptionsofinvestigationsthatthepaediatricianshouldconsideraspartofadysmorphologywork-up.Formanydoctors, discussingissuesrelatingtosyndromediagnosisanddysmorphismwithparents canbedifficult,andsomesuggestionsareoutlinedbelow.HistorychecklistUsethischecklisttotakeadetailedhistoryofthemotherandinfant:obstetrichistoryrecurrentmiscarriagesuterineabnormalitiespregnancyhistorynoteexposuretoanyteratogenshistoryofmaternalalcoholorrecreationaldrugexposureamnioticfluidvolumeresultsofultrasoundandamniocentesis/CVSfetalgrowthandmovementsmaternalillness,medicaldiagnosesandmedicationstakenbirthhistoryApgarscores,resuscitationrequiredfamilyhistoryofabnormalities,stillbirths,childhooddeathsconsanguinity.ExaminationchecklistThefollowingfocusesontheexaminationford
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