PowerPoint Presentation

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