10 Arch Dis Child 2000;83:10–17 CURRENT TOPIC Arch Dis Child: first published as 10.1136/adc.83.1.10 on 1 July 2000. Downloaded from The principles of management of congenital anomalies of the upper limb Stewart Watson Abstract These seven groups have the attraction of Management of congenital anomalies of the grouping together what seem at first glance to be upper limb is reviewed with reference to similar conditions. The more closely each group classification and aetiology, incidence, diag- is analysed, however, the more of a mixed bag of nosis before birth, broad principles of conditions they seem to be, and the more one treatment, timing of x rays and scans, func- can question whether they should be grouped tional aims, cosmetic appearance, counsel- together. For instance, typical cleft hand, ling of parents, therapists, scars, skin although it has absent parts to the centre of the grafts, growth, and timing of surgery. Notes hand, does not have any hypoplastic parts, on 11 congenital hand conditions are given. whereas symbrachydactyly is a whole range of (Arch Dis Child 2000;83:10–17) degrees of absence and hypoplasia. The known inheritance also varies within groups from dominant genes in typical cleft hand, in There are six current textbooks referenced.1–6 Madelung’s and some syndactyly families,8 to Each is an excellent starting point for reading known associations in the Vater cases, to condi- on this subject; together they provide in depth tions with no known hereditary element. coverage and details of surgical techniques. So this classification, although giving some There is little consistency in the noun used. insight into the embryological problem, contains Deformity, anomalies, malformations, are all classification uncertainties. Others, such as used, often in the same text and also in an Ogino,9 have proposed improvements to address attempt to get away from stigmatising nouns, some of the uncertainties, but they persist. http://adc.bmj.com/ Graham Lister uses “diVerences”.6 Such classifications are of little practical value Classification and aetiology in the everyday management of congenital hand The currently used classification of congenital malformations. Each case should be analysed in anomalies of the upper limb is based on that of its own right, the malformations described, and Swanson modified by the Congenital Malfor- treatment planned on this analysis. mations Committee of the International Fed- There is growing insight into the early develop- 10 11 eration of Societies for Surgery of the Hand ment of the limb and its gene control. As this (IFSSH) in 1983.1–4 7 understanding unfolds we should have a classifi- on September 29, 2021 by guest. Protected copyright. I. Failure of formation of parts (arrest of cation which would be more secure. A genetic development) opinion on a child with congenital anomalies is A. Transverse arrest (common levels are of great value, both to the treating team and to upper third of forearm, wrist, metacarpal, the parents, and should always be sought. phalangeal) Incidence B. Longitudinal arrest (including phocomelia, Estimates of incidence from diVerent countries radial/ulnar club hands, typical cleft hand, are discussed in the standard textbooks. One set atypical cleft hand otherwise referred to as of figures comes from the Congenital Malforma- part of the spectrum of symbrachydactyly) tions Committee of the International Federation II. Failure of diVerentiation of parts of Societies for Surgery of the Hand, published A. Soft tissue involvement by Lamb in 1982.714 They give the minimum B. Skeletal involvement estimate of cases per 10 000 total births. Their C. Congenital tumorous conditions (includes total is 22.91. Of this all types of polydactyly radio-ulnar synostosis, symphalangism together were 9.5, all types of transverse failure Fernleigh Consulting (stiV proximal interphalangeal joints of formation at hand/finger level 5.8, syndactyly Centre, 77 Alderley (PIPJs) with short phalanges), camptodac- Road, Wilmslow, 1.5, hypoplasia 1.3, radial club hand 0.8, ring tyly, arthrogryposis, syndactyly) constriction 0.6, and amelia 0.2. Compare this Cheshire SK9 1PA, UK III. Duplication S Watson with about 14 clefts per 10 000 births. IV. Overgrowth Correspondence to: V. Undergrowth (thumb hypoplasia, Made- Diagnosis before birth Mr Watson lung’s deformity (abnormal distal radial Antenatal diagnosis by ultrasound is increas- email: growth) ingly possible, particularly in cases of aplasia. [email protected] VI. Congenital constriction band syndrome This will prepare the parents for the deficiency Accepted 7 March 2000 VII. Generalised skeletal abnormalities. before birth. Management of congenital anomalies of the upper limb 11 Broad principles of treatment should see the child preoperatively, with plenty The hand surgeon’s aim is to achieve the maxi- of time to talk to the parents and the nurse who Arch Dis Child: first published as 10.1136/adc.83.1.10 on 1 July 2000. Downloaded from mum upper limb function possible to suit each has been looking after the child. The day before individual patient, always bearing in mind the is the best time but with the increasing demand importance of cosmetic appearance. Physi- for day surgery and reducing the number of otherapy and occupational therapy splintage nights in hospital, the anaesthetist often does are invaluable in many conditions and therapy not see the child until the day of surgery. The should start in the neonatal period. This treat- child needs one and a half hours for the Emla ment in not invasive and can run concurrently cream to take eVect before going to theatre. with the treatment of other conditions. Early Modern hand surgical procedures on children referral to the hand surgeon and specialist and on adults share the common need for therapist is important. specialist nursing teams, specialist equipment Children with congenital anomalies of the needed in microsurgery, bone fixation, and imag- upper limb must be thoroughly assessed, both ing the skeleton. Long operating times are often from their general physical (including haema- needed. The surgeon needs to be practiced in all tology in the case of radial club hand) and aspect of hand surgery including microsurgery. mental development. The specialist hand Paediatric hand surgery is not for the occasional surgeon planning the treatment of congenital operator. It must take place in the correct hand problems has to be very much aware that environment for the management of children, he is providing only part of the developmental with all the paediatric support services that are needs of the child. required. It is important to marry up the paediat- he upper limb anomaly may well be part of a ric needs with surgical needs for a successful out- wider anomaly, for instance the VATER associ- come. In some cities the main paediatric facilities ation (vertebral, anal, tracheo-oesohageal, radial and the surgical units where hand and microsur- club hand), sometimes expanded to VACTERL gery are regularly practiced are not on the same to recognise the associated cardiac and renal campus. Hence one or other has to be duplicated anomalies that occur. Radial club hand is an at the other site and the two disciplines must associated cardiac septal defect in the domi- understand each other’s diYculties. nantly inherited Holt–Oram syndrome. Radial club hand can be associated with rare haemato- The timing of x rays and scans logical conditions: thrombocytopenia in TAR Rays in the neonatal period give some idea of syndrome and pancytopenia of Fanconi’s anae- x the bony anomaly but are not as useful as rays mia. Apert’s syndrome is the association of x at a few months of age just prior to surgery. So craniofacial anomalies with mitten hands. take rays if you have a reason to, but otherwise Some operations need to be done in the first x leave them for later. The new imaging ma- few months of age, but in the majority of con- chines that are available to hand surgeons for genital conditions, surgery is best undertaken use in the operating room and outpatients are between 6 and 18 months. Some operations are http://adc.bmj.com/ of such low dose of radiation that they are very long; for instance toe to hand transfers take five useful in children who will need many rays to 10 hours and are usually performed between x over the years. 2 and 4 years. The treatment must be integrated with the management of the child’s other medical and Functional aims surgical problems and indeed the child’s normal Sensation is paramount. A part with no sensa- developmental need (schooling for instance). tion is not used and does not grow. Congenital The safe management of operations is very anomalies will all have normal sensation. This on September 29, 2021 by guest. Protected copyright. much dependent on the screening of children is diVerent to some obstetric brachial palsy by the diVerent medical services (general prac- patients or injured patients. Any reconstructive titioner, community services, hospital paediat- surgery that involves a nerve anastomosis will ric services, and other hospital specialties) to only be successful if there is a good level of ensure that the child is thriving and to diagnose sensory return. Nerve recovery in very young or exclude other medical conditions. children is considerably better than in older The hand surgeon cannot assume that the children and is a strong reason for very early diVerent medical services know about the surgery, as for instance in toe to hand transfers. planned hand surgery. The hand surgeon must The patient’s general and mental capacity actively check that everyone is in agreement and its prognosis must be assessed. A child and that the timing of the surgery is optimal with limited mental capacity still needs hand and the child fit.