The etiology of congenital malformations can be summarized into two types: one is endogenous, i.e., genetic factors. The other is exogenous, i.e. malformations that occur during the embryonic period under the influence of external factors.
Classification of congenital malformations of the limbs.
(i) Limb formation disorders: complete or partial defects of the limbs, divided into two types, transverse and longitudinal Xu Lei, Department of Hand Surgery, Huashan Hospital, Fudan University
Transverse defects.
1, congenital absence of the shoulder.
2, congenital absence of arm.
3, congenital absence of elbow.
4, congenital absence of forearm.
5, congenital absence of the wrist.
6, congenital absence of the carpal bones
7, congenital absence of the palm
8, congenital absence of fingers.
Longitudinal defects.
1, radial longitudinal defects.
(1) radial dysplasia.
(2) partial agenesis of the radius.
(3) Radial bone is completely absent.
2, ulnar longitudinal defect: (1) ulnar partial defect
(1) partial agenesis of the ulna
(2) total absence of the ulna
(3) ulnar agenesis combined with humeral radial bony union.
3.Central longitudinal fracture defect (split hand)
(1) typical
(2) atypical (including syndactyly and polydactyly).
4.Central longitudinal stop (seal hand)
(1) Complete seal hand: the upper arm and forearm are undeveloped and the hand is directly attached to the shoulder.
(2) Proximal type seal hand: the upper arm is not developed and the forearm is directly attached to the shoulder.
(3) Distal type seal hand: forearm is absent and the hand is directly attached to the end of the upper arm.
(ii) Impaired limb differentiation: various factors affect the differentiation of normal limb buds into separate skeletal, skin, fascial or neurovascular tissue components
Soft tissue differentiation disorders.
1, congenital multiple joint contractures.
2, shoulder: incomplete shoulder descent, absence of pectoralis muscle
3, elbow and forearm.
(1) Slipped extensor tendon.
(2) flexor tendon slippage.
(3) intrinsic tendon slippage.
4.Wrist and hand
(1) skin and fingers.
(2) Contracture secondary to muscle, ligament and joint differentiation disorders: 1st finger web contracture, joint flexion deformity, finger flexion deformity, trigger finger.
Skeletal differentiation disorders.
1, congenital humeral inversion.
2. Osseous fusion of the elbow joint.
(1) Osseous fusion of the humeral radius.
(2) Osseous fusion of humeral ulna.
(3) Total elbow joint osseous fusion.
3.Forearm.
(1) proximal radial and ulnar osseous fusion
(2) distal radial and ulnar osseous fusion.
4.Wrist and hand.
(1) bony syndesmosis: radial, central, ulnar, boxer (complete).
(2) intercarpal bony fusion: lunar-triangular bony fusion, cephalic-hook bony fusion, navicular-lunar bony fusion.
(3) intermetacarpal bony fusion.
(4) interphalangeal joint fusion.
Congenital soft tissue masses
1. Angiomatous masses.
(1) capillary hemangioma.
(2) cavernous hemangioma.
(3) Arteriovenous fistula.
2.Lymphatic masses: lymphangioleioma
3.Neurogenic masses.
(1) adult neuroblastoma.
(2) multiple neurofibromas.
4.Bone masses: osteochondromatosis
(C) Repetitive limb deformity
1.Multiple deformities
(1) radial polydactyly
(2) central polydactyly.
(3) ulnar polydactyly.
2.Twin hand deformity also called mirror hand
3.Twin ulnar deformity
(D) overgrowth: the whole limb or a single part of overgrowth
1.All limbs.
2.Partial limb.
3, giant finger.
(e) Undergrowth: incomplete and short limb formation, but complete morphology
1.All of the limbs.
2, all of the hand.
3, metacarpals.
4.Fingers.
(1) short finger and finger deformity
(2) Short finger deformity
(6) Congenital girdle syndrome: there are strips of transverse indentations on the limb, as if the indentation of the girdle, and the indentation may even cause congenital amputation if it is too deep.
1.Bundle band
(1) Non-combined lymphedema.
(2) Combined lymphedema.
2.Extremity syndactyly
3.Intrauterine transection
4.Union type
(VII) Extensive bone anomalies
Treatment principles of congenital malformation
(a) Treatment purpose: Treatment is mainly to improve the function, followed by the improvement of appearance
(2) Treatment timing: deformities that hinder development will gradually worsen with the development of limbs, and these deformities need to be treated early; deformities that do not hinder development can be postponed until preschool age; surgeries involving bone orthopedics, especially those affecting bone development, are best prolonged until after basic bone development has stopped.
(iii) Multiple surgeries: Serious deformities often involve various important tissues in the hands. Surgical treatment often needs to be carried out in planned stages as development grows until the end of adulthood.
(iv) Adjunctive treatment: congenital deformities of the hand have a great capacity for functional compensation as they develop and grow during childhood. Therefore, for some hands with severe deformities, a positive attitude should be adopted, and conscious guidance and training should be provided from early childhood, which will yield good results.