Dysmorphic Child
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DYSMORPHIC CHID
Dr. Alawi AlhebshiConsultant Pediatrician and NeonatologistDIFINITIONSDYSMORPHOLOGY:Study of abnormality of Human FormAnd the mechanism that cause itEPIDEMIOLOGYWhat is the % of newborns who have malformation?2.5%EPIDEMIOLOGYWhat is the % of Pediatric admission that have dysmorphism?
10%EPIDEMIOLOGYWhat is the % of dysmorphic children with unknown etiology?18%EPIDEMIOLOGYWhat is the % of infant mortality due to dysmorphism?30%DIFINITIONSMalformation:Primary structural defect that results into abnormal formation of organ
Digeorge syndromeDysplasia : Poor organization of cells that leads to formation of organKidney dysplasia
Deformation: Mechanical force that alters structure of normal organClub foot
Disruption: In utero , tissue destruction after a period of normal morphogenesisAmniotic membranes
Syndrome: Multiple malformation in unrelated tissues without understandable cause with possible identification of genetic etiologySequence: Same as syndrome though they are caused by single event that might occur due to many etiologiesPierre Robin sequence
Association Same as syndrome without known etiology
Etiology of DYSMORPHISMMonogenic ChromosomalMaternal infectionMaternal illness7.5%6%2%3.5%Etiology of DYSMORPHISMUterine environmentEnvironmental agentsMedicationsUnknownSporadicnutritionalApproach to DYSMORPHIC CHILDApproachHistoryClinical examinationImagingLABDiagnosisManagementHistoryFamily PedigreePerinatal history
AR
ARXL
HistoryFamily PedigreePerinatal historyClinical examinationDysmorphic Nomenclature Brachycephaly
Brushfield spots
Clinodactyly
Epicanthic folds
Hypoplastic nails
Lower-set ears
Milia
Ocular hypertelorism
Plagiocephaly
Polydactyly
Scaphocephaly
Short Palpebral Fissures
Syndactyly
Synophrys
Telecanthus
ImagingSkeletal surveyCNS imagingECHORenal USLABChromosomal analysisCytogenic studiesKaryotype analysisMolecular testingDiagnosisSmiths Recognizable Patterns of Human MalformationWinter-Baraitser Dysmorphology database
ManagementGenetic counselingMode of inheritanceSearch for associationNatural historyRecurrence risk estimatesTHANK YOU