CONGENITAL ANOMALIES DEVELOPMENTAL DISORDERS AND DYSPLASIAS Melih Gven

CONGENITAL ANOMALIES DEVELOPMENTAL DISORDERS AND DYSPLASIAS Melih Güven, M. D Assoc. Prof. Yeditepe University Hospital Department of Orthopaedics and Traumatology Istanbul

Congenital Anomalies üPhysical variations those disorganize physical appearance and function üCan be üin a single part of extremity üin one extremity ümultiple ücombined with severeal anomalies

Congenital Anomalies üEtiology üGenetic üSingle gene pathology üMultiple genes pathologies üChromosomal anomalies üNon-genetic üTeratogenic üİdiopathic

Congenital Anomalies üClassification üInterruption of development (Facomelia, Aphalangea) üSeparation deficit üDuplication üOvergrowth üHypoplasia üConstructive band syndrome üGeneralized skeletal anomalies 4

Congenital Anomalies üClassification üInterruption of development üSeparation deficit (Syndactyly) üDuplication üOvergrowth üHypoplasia üConstructive band syndrome üGeneralized skeletal anomalies 5

Congenital Anomalies üClassification üInterruption of development üSeparation deficit üDuplication (Polydactyly) üOvergrowth üHypoplasia üConstructive band syndrome üGeneralized skeletal anomalies 6

Congenital Anomalies üClassification üInterruption of development üSeparation deficit üDuplication üOvergrowth (Macrodactyly) üHypoplasia üConstructive band syndrome üGeneralized skeletal anomalies 7

Congenital Anomalies üClassification üInterruption of development üSeparation deficit üDuplication üOvergrowth üHypoplasia (Phalangeal hypoplasia) üConstructive band syndrome üGeneralized skeletal anomalies 8

Congenital Anomalies üClassification üInterruption of development üSeparation deficit üDuplication üOvergrowth üHypoplasia üConstructive band syndrome üGeneralized skeletal anomalies 9

Congenital Anomalies üClassification üInterruption of development üSeparation deficit üDuplication üOvergrowth üHypoplasia üConstructive band syndrome üGeneralized skeletal anomalies (Arthrogryposis multiplex congenita) 10

Congenital Anomalies üTreatment üControversies about timing of treatment üBefore the recognition of upper extremity üBefore walking for the lower extremity üTreatment modalities üReconstructions (esp. in upper extr. ) üDeformity correction and extremity lengthening üAmputations

Torticollis üSternocleidomastoid (SCM) muscle spasm or contracture üCongenital or acquired üAssociation with DDH üBefore 1 st year of life – conservative üAfter 1 st year – surgical release 12

Radial Club Hand üPartial or total absence of radius üAssociated congenital cardiac pathologies, abdominal pathologies and haematologic diseases üSurgical reconstruction after 6 months of age 13

Madelung Deformity üUnknown etiology (may be developmental) üUndergrowth of distal radial epiphysis üUlnar deviation of the wrist üCorrective osteotomies and reconstruction 14

Syndactyly üPartial – Total üSimple – Complex üSurgery for hands üObservation for foot 15

Polydactyly üPreaxial, postaxial, central üSurgery for both hands and feet 16

Macrodactyly üCan be associated with vascular anomalies or neurofibromatosis üSevere functional and cosmetic problems üReconstruction or amputation 17

Cleft Hand – Cleft Foot üAbsence of central ray of hand or foot üReconstructive surgeries 18

Trigger Finger üDevelopmental üFrequently in thumb üSurgical release of A 1 pulley 19

Lower extremity long bone deficiencies üProximal focal femoral deficiency üTibial hemimelia üFibular hemimelia 20

Clubfoot (Pes Equinovarus) üMost common congenital foot deformity üEarly diagnosis and treatment are very important üConservative treatment – GOLD standard üCorrective manipulation and serial casting 21

Vertical Talus üRigid pes planovalgus üCan be associated with syndromes üSurgical correction in early ages is necessary 22

Postural Foot Deformities üMetatarsus adductus üCalcaneovalgus 23

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 24

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 25

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 26

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 27

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 28

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 29

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 30

Others… üConstructive band syndrome üArthrogryposis multiplex congenita üFreeman-Sheldon syndrome üHold-Oram syndrome üPoland syndrome üDown syndrome üMarfan syndrome üNeurofibromatosis 31

You should remember … üClassification of congenital anomalies üDefinition of most common deformities üTorticollis üSyndactyly, polidactyly, macrodactyly üCleft Hand üClubfoot (PEV) üTrigger finger 32

Thank you …