CONGENITAL ANAMOLIES OF UPPER LIMB

DR. KK

DEFINITION

• Deformities since birth called congenital anamolies

• Anamolies of hand, forearm, arm, shoulder…

Incidence

each year about 4 out of every 10,000 babies will have upper limb anamolies

EMBRYOLOGY

• Onset of development of arm bud - 27 days 4th week

• Well-developed arm bud - 28-30 days• Elongation of arm bud - 34-36 days

5th week • Formation of hand paddle - 34-38

days• Onset of finger separation - 38-40

days• Full separation of fingers - 50-52

days 7th week

EMBRYOLOGY

International Federation of Societies for Surgery of the Hand

(IFSSH - 1983)I. Failure of formation of parts (arrest of

development)

A. Transverse arrest (common levels are upper third of forearm, wrist, metacarpal, phalangeal)

B. Longitudinal arrest (including phocomelia, radial/ulnar club hands, typical cleft hand, atypical cleft hand otherwise referred to as part of the spectrum of symbrachydactyly)

International Federation of Societies for Surgery of the Hand

(IFSSH - 1983)

II. Failure of differentiation of partsA. Soft tissue involvementB. Skeletal involvementC. Congenital tumorous conditions radio-ulnar synostosis, symphalangism (stiff PIP joints with short

phalanges), camptodactyly, arthrogryposis, syndactyly.

International Federation of Societies for Surgery of the Hand

(IFSSH - 1983)

III. Duplication

IV. Overgrowth

V. Undergrowth (thumb hypoplasia, Madelung's deformity (abnormal distal radial growth)

VI. Congenital constriction band syndrome

VII. Generalised skeletal abnormalities.

Diagnosis before birth

Antenatal diagnosis by ultrasound is increasingly possible, particularly in cases of aplasia.

This will prepare the parents for the deficiency before birth.

CLUB HAND

• Club hand deformites are classified into two main categories radial and ulnar.

• Radial club hand• Ulnar club hand

RADIAL CLUB HAND

RADIAL CLUB HAND

• Radial club hand includes a wide spectrum of disorders that encompass absent thumb, thumb hypoplasia, thin first metacarpal and absent radius.

• Radial club hand is frequently syndromatic

• 1733

RADIAL CLUB HAND

Well-developed arm bud - 28-30 days males : females (3:2) 1:55000 to 1:100000 live births

maternal drug exposure, compression of the uterus, vascular injury, Apical Ectodermal Ridge (AER)

RADIAL CLUB HAND

RADIAL CLUB HAND

Type I: Short distal radius - mildest type,

Type II: Hypoplastic radius, Type III: Partial absence of radius,Type IV: Total absence of radius - most

common variant.

RADIAL CLUB HAND

RADIAL CLUB HAND

Syndromes associated

Holt-Oram,

TAR syndrome ,thrombocytopenia pancytopenia of Fanconi's

anaemia

VATER syndromevertebralAnalTracheo-oesohagealRadial club hand

.

DeLange, Daune, Ives Houston,Roberts, Rothmund Thompson Shokeir syndromes. Aase syndrome

RADIAL CLUB HAND

RADIAL CLUB HAND

TREATMENT :

slow distraction by external fixationhand can be aligned on the forearmpreserve some wrist movementindex finger is pollicised.

Ulnar club hand

• Ulnar club hand is much less frequent than radial club hand

• ranges from mild deviation of hand on the ulnar side of forearm to complete absence of ulna.

• ulnar club hand is usually isolated anomaly 

TREATMENT

Exerciselimb lengtheningOsteotomyRadializationSplintWrist centralization

Madelung deformity

A growth disturbance in the volar-ulnar distal radial physis

volar and ulnar tilted distal radial articular surface,

volar translation of the hand and wrist,

a dorsally prominent distal ulna.

Madelung deformity

Madelung deformity

adolescent females pain, decreased range of motion, and

deformity. genetic etiology and is associated with

mesomelic dwarfism and a mutation on the X chromosome.

Surgery addressing the deforming bony and ligamentous lesions, correcting the abnormal position of the radial articular surface, and equalizing the longitudinal levels of the distal radius and ulna

Madelung deformity

Apert's syndrome

craniofacial anomalies with mitten hands.

Apert's syndrome

• Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet.

• It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible

• Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.

Apert's syndrome

Apert's syndrome

CLEFT HAND

CLEFT HAND

• Typical cleft hand is usually bilateral, often affecting the feet as well

• AD

• The deficiency is maximal on the ulnar size, leaving in severe cases only a hypoplastic thumb.

CLEFT HAND

Syndromes

Cornelia de Lange’s syndromeOculodigital complexOrodigital complexOtodigital complex (Wildervank syndrome)Silver-Russell syndromeElectrodactyly-ectodermal dysplasia-clefting syndrome

RING CONSTRICTIONS

RING CONSTRICTIONS

These are released by cutting large Z-plasties, which often have to be repeated as the finger grows.

Polydactyly

THUMB HYPOPLASIA AND APLASIA

• no trapezium or trapezio-metacarpal joint.

• Hypoplastic thumbs can be stabilised and given more movement by tendon transfers.

• The operation of choice is to pollicise the index finger

THANKZ

"The only disability in life is a bad attitude.“

Scott Hamilton

CONGENITAL ANAMOLIES OF UPPER LIMB

…….. Known is a drop….…………………..unknown is an ocean………..

Dr. Kalaivanan Kanniyan Assistant Professor – OrthopaedicsArthroplasty and Adult Reconstruction UnitSMCH, Saveetha University, chennai, Tamil

Nadu, India.