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Four hands of a pair of identical twins demonstrated manifestations of both cleft hand deformity and central polydactyly, supporting the concept that a common etiological mechanism is involved in the development of these anomalies.
In 1983 Sommer described a new syndrome in a mother and her infant daughter which was subsequently called the syndrome of craniofacial, hand anomalies and sensorineural deafness. The syndrome consisted of a normal calvarium with a flat facial profile, hypertelorism and small palpebral fissures with an antimongoloid slant, a depressed nasal bridge with a button tip and slitlike nares and a small "pursed" mouth. Profound sensorineural hearing loss and ulnar deviation of the hands with flexion contractures of digits three, four and five was evident. The family had another child, a son, two years after the birth of the index case that had the exact manifestations as his mother and sister. Because of three affected family members in two generations and a phenotype of midfacial anomalies and dystopia canthorum resembling Waardenburg syndrome, a search for mutations in the PAX3 gene was undertaken. A missense mutation in the paired domain of PAX3 (Asn47Lys) was detected. We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation.
The windblown hand deformity, also known as congenital ulnar drift of the fingers and congenital contractures of the digits is reported infrequently in the literature. Although the syndrome is well described, authors' use of different terms is confusing. In more than 20 years of practice, we have observed 11 patients with the windblown hand and have operated on 7 hands in 4 patients. The anomaly appears to be inherited as an autosomal dominant trait and may represent a variation of some type of arthrogryposis. Ulnar drift of the digits is often present at birth and becomes more pronounced as the child grows. The one factor common to all case reports is a flexion contracture of the metacarpophalangeal joints, with ulnar deviation of the fingers. Also, the thumb is webbed to the palm by a soft tissue bridge. Most cases of the windblown hand should be treated within the first 2 years of life. Because the windblown hand has many variations, each patient must be treated individually. We report a series on the windblown hand and propose a treatment plan for this rare anomaly.
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In summary, patients with multiple hereditary exostosis often inherit hand involvement but rarely show hand deformity. The principal area of involvement appears to be around the MCP joint but the PIP joint is the most common area of deformity. Metacarpal shortening usually does not cause functional problems and need not be treated. Angular deformity, though rare, does cause problems and needs surgical treatment. Unfortunately, there is no evidence that prevention of deformity is possible by early excision of osteochondromas. Treatment, therefore, requires both osteochondroma excision and closing-wedge corrective osteotomy.
A material of 89 cases of upper extremity deformities, among the 3225 cleft patients born during the period 1950-75, and treated in the Finnish Red Cross Cleft Centre is presented. About two-thirds of the patients had an isolated cleft palate--half of the male and nearly all of the female patients. The percentage of upper extremity deformities appearing with the different types of the orofacial clefts was, for clefts of the primary palate 2.0: specifically for cleft lip 0.8, cleft lip--palate 2.6, and cleft lip and palate 3.6; and for clefts of the secondary palate 3.5: specifically for cleft palate 3.7, submucous cleft palate 1.6; and for the branchial arch syndrome (lateral cleft) 5.2; the total average being 2.8 percent. About one-third of the patients were dwarfs, most of them diastrophic dwarfs. Syndactyly was somewhat more common among cleft patients, 0.3%, than in the average population. Polydactyly, 0.1% was about as common as the average. Ectrodactyly was more common among cleft patients, 0.4%, than either syndactyly or polydactyly that are considered the most common hand deformities among the general population. The syndactyly cases were more complicated than the average, among them 4 cases of Apert syndrome were noted. About three-fourths of the 89 patients had multiple deformities.
Radial clubhand deformity secondary to atrophic nonunion of an open distal radius fracture with bone loss is a challenging reconstructive problem. Two patients with this deformity had staged reconstruction using the Ilizarov apparatus. After gradual realignment of the distal radius metaphyseal fragment, a proximal to distal bone transport of the radial shaft was done. At completion of the bone transport, the docking site was augmented with autologous iliac crest bone graft. Both patients achieved radiographic union at the proximal and distal ends of the bone transport site and were satisfied with the outcome. At 3 years followup, full finger and elbow mobility were maintained. The wrist had improved appearance with limited painless mobility. Posttraumatic radial club hand deformities with associated bone loss can be treated successfully with staged reconstruction using the Ilizarov apparatus and methodology.
We describe a family with arthrogrypotic-like hand abnormalities. There were ten affected members in two generations. Three of ten affected persons showed an associated sensorineural hearing loss. The degree of the hand deformities and hearing loss varied in affected individuals. The pattern of inheritance seems to be autosomal dominant with variable expressivity. The findings in this syndrome resemble those reported previously.
A philosophy of treatment and surgical planning for the rheumatoid arthritis patient with hand deformities has been outlined. The surgeon should select procedures that are reliable and that will build confidence in the patient. The surgical goals are pain relief, improved function, prevention of further deformity, and cosmesis. The techniques of several surgical procedures advocated by the authors are described and they represent the continuum of bone and joint procedures from the past to the present.
Two patients with scleroderma developed a non-erosive hand deformity resembling Jaccoud's arthropathy. Neither had a history of rheumatic fever or clinical and serological features of systemic lupus erythematosus. This type of arthropathy may be more common in scleroderma than is currently appreciated.
The recessive form of dystrophic epidermolysis bullosa (RDEB) is associated with severe hand deformities characterized by cocooning pseudopolysyndactyly, recurrent ulceration, fibrosis, and adduction contracture of the thumb. In addition, RDEB is associated with an aggressive form of squamous carcinoma, notable for rapid metastases, appearance at an early age, and a relative resistance to radiation or chemotherapy. To date, reported reconstructive treatment has been limited to excision with skin grafting or amputation. We report the successful combined use of tissue expansion and microsurgical free tissue transplantation to reconstruct a patient with RDEB found to have malignancy of the hand. Donor skin was found to expand without blistering, and use of the expander allowed primary donor site closure after microsurgical transplantation of a scapular flap. We recommend wide tumor resection and the aggressive use of contemporary reconstructive methods to maintain hand function and associated quality of life in patients with RDEB who develop malignancy.
Twenty-six cases of Zancolli's "lasso" procedure are presented. They were part of a series of 122 operations performed for leprosy in Central Africa. Nineteen cases with a follow-up of more than 6 months were reviewed. Fifteen of these patients had good or very good results. When claw hand deformities are supple, one flexor superficialis tendon may be used for two fingers; when the fingers are partially stiff, one tendon for each finger should be used. The "lasso" procedure is simple and the results are satisfactory, particularly in this series of patients who did not follow any rehabilitation program.
An eight-year-old boy presented with a congenital windblown hand deformity associated with partial hypertrophy of that arm. Many of the classical features of the windblown hand syndrome described in previous papers were absent. In this case, the primary cause of the ulnar-drift deformity was an anomalous epiphysis at the base of the second metacarpal. Surgical correction was readily obtained by osteotomy at the base of the metacarpal combined with soft tissue re-alignment.
Three cases in which congenital carpal fusion was associated with formation deficiencies of the hand are presented. In two patients with a lunate-triquetral and a capitate-hamate-trapezoid coalition, respectively, an ulnar deficient hand was also diagnosed. A subdivision of the first type of ulnar club hand deformities is proposed. Other skeletal anomalies included duplication of a phalanx and pseudoepiphysis of a metacarpal, respectively. In the latter case hypoplasia of the flexor tendons to the fingers, excluding the thumb, was also noted. In the third case, a proximal capitate-hamate coalition coexisted with aplasia of the flexor tendons to the middle finger.
Two cases of congenital isolated hypertrophy of the left upper limb with different hand deformities are described. A 4-year-old girl had splayed fingers and an abducted thumb due to anomalous muscles. Excision of these muscles corrected the deformity. The other, an 8-year-old boy, had severe ulnar drift of the fingers (windblown-like hand). He had corrective osteotomies of the second and third metarcarpals and reconstruction of the collateral ligaments. The deformity was corrected and at the latest follow up there was with no recurrence of the deviation. Both cases regained good hand function.
Twenty right metacarpal bones of Brazilian fetuses (ranging from 17 to 35 weeks post-conception) were studied by the allometric method to define the pattern of metacarpal growth. The metacarpal measurements analysed were their maximum length (ML), ossified shaft length (OSL) and midshaft breadth (MSB). These data were related to crown-rump length and the metacarpal weight to fetal weight. The increase in metacarpal measurements showed an allometric positive coefficient (kappa), highest in the OSL. The ML growth followed an axo-marginal pattern. The 3rd metacarpal showed the highest MSB kappa coefficient. The metacarpal weight showed the highest correlation coefficient (r) to the fetal data. These findings are important to the knowledge of human hand growth and are the basis of preventive surgery for congenital deformities of the hand.
Four patients with adult acquired spastic hemiplegic hand disorders had brachioradialis to extensor digitorum communis tendon transfer to establish motor balance and improve prehensile hand function. All of the patients had volitional control of the wrist and finger flexors without control of the finger extensors, producing a dynamic hand deformity in which the patients could initiate grasp without release. Dynamic electromyography in these patients revealed electrical activity of the brachioradialis muscle during active elbow extension, making a seemingly "out-of-phase" muscle available for "in-phase" tendon transfer. At follow-up, ranging from 26 to 36 months (average of 30.2 months), all four patients improved three functional levels. Translated to functional capacity all of the patients had no functional capacity before operation and good assistive prehension afterward.
The extensor carpi ulnaris (ECU) was transferred to the extensor pollicis brevis, as described by Phalen and Miller, in 12 patients with hand deformities from high and low median and ulnar nerve injuries. Although no complications of this transfer have been reported by other surgeons, four of our 12 patients developed significant radial deviation and loss of power grip. This complication was corrected in two patients by transferring the extensor carpi radialis longus to the base of the fifth metacarpal to balance the wrist extensor forces. We believe that this complication may occur when the extensor carpi radialis inserts into the radial aspect of the second metacarpal and when the ECU inserts into the ulnar aspect of the base of the fifth metacarpal. The flexor carpi ulnaris must have normal strength if the wrist is to be balanced after the ECU is transferred.