Radial Deficiency Research Articles

Congenital limb deficiences associated with Klippel-Feil syndrome: a survey of 57 subjects.

We reviewed data from 57 patients (40 women) with Klippel-Feil syndrome to identify and characterize limb deficiencies. The cervical synostosis was classified according to the description of Feil (1919). Limb deficiencies were classified according to Henkel et al. (1978) and compared with the sclerotome theory of McCredie and Willert (1999). In a wide variety of combinations of Klippel-Feil syndrome (types I-III) and other anomalies, only 5 patients had a longitudinal upper limb deficiency (one arm or both arms). 4 patients had Klippel-Feil syndrome type II and 1 had type I. 4 patients had "longitudinal distal radial deficiencies", Henkel types 1, 2, 4 and 5 and 1 patient showed "longitudinal combined humero-ulna deficiencies" types 2 and 3 of both arms. The lower limb was not affected. The combination of Klippel-Feil syndrome and upper limb deficiency shows that the defect occurred between the 4th and 5th week of gestation. Sclerotome 6 was mainly affected in our study. In 4 of the 5 patients, the cervical fusion level and sclerotome level of the limb deficiency clearly or partly matched, whereas there was no agreement in 1 patient.

The spectrum of radial longitudinal deficiency: a modified classification.

The records of 119 patients with 196 extremities with radial longitudinal deficiency seen between 1923 and 1996 were reviewed. We propose a global classification system that includes the spectrum of pathology affecting the radial side of the extremity, including deficiency of the radius, carpal abnormalities, and hypoplastic thumbs. Radial deficiency could be classified for 181 extremities of 104 patients using this classification system. Type N has a normal length radius and a normal carpus with thumb hypoplasia, type O has a normal length radius and radial side carpal abnormalities, type 1 has more than 2 mm shortening of the radius, type 2 has a hypoplastic radius, type 3 has a partial radius with absence of the distal physis, and type 4 has complete absence of the radius. All patients had thumb hypoplasia. Eighty-two percent of extremities with thumb hypoplasia but no deficiency of the radius that were available for carpal bone classification had carpal anomalies, including absence, hypoplasia, and coalitions. All the extremities with type 1 radial deficiency had carpal anomalies. Carpal abnormalities could not be determined for types 2, 3, and 4 deficiency because most had a prior centralization. Proximal radioulnar synostosis or congenital dislocation of the radial head was seen in 44% of extremities with type 1 radial deficiency. This classification includes carpal anomalies and thereby links isolated thumb hypoplasia and deficiency of the radius into one system.

Instructional Course Lectures, The American Academy of Orthopaedic Surgeons - Longitudinal Failure of Upper-Limb Formation*†

Failure of formation of the structures of the upper extremity presents as longitudinal or transverse deficiencies of the embryonic limb bud. The deficiencies that develop along longitudinal axes are classified as radial, central, or ulnar. Use of the once commonly employed terms pre-axial and post-axial for describing longitudinal deficiencies is discouraged as these terms do not include the concept of central defects. It is tempting to speculate that these axially oriented failures of formation are the result of teratogenic insults or genetic influences that destroy cells at specific locations on the apical ectodermal ridge or the supporting mesoderm of the embryonic limb bud7. Although this is true for radial deficiencies, which characteristically affect only the structures on the radial border of the forearm and hand, the cause of ulnar and central deficiencies is not as clearly defined. Ulnar deficiency may include dysplasia of the thumb and the radial rays in addition to the ulnar structures. Central deficiency (cleft hand) is frequently associated with polydactyly (duplication) or syndactyly (failure of differentiation), or both, of the central digits. These more complex presentations suggest that the concept that deficiencies of the upper extremity are related to focal limb-bud-cell destruction is too simplistic. Nevertheless, it provides a basis for categorizing and discussing the clinical presentations. Radial deficiency describes a spectrum of osseous, musculotendinous, and neuromuscular dysplasias of the radial border of the upper limb69. Kato et al.35 produced varying degrees of radial deficiency by administering Myleran (busulfan) to pregnant WKAH/Hkm rats at nine to 11.5 days of gestation. The extent of the deficiencies was dose-related and resembled that of deficiencies seen in humans. Associated skeletal, hematological, cardiac, renal, and gastrointestinal defects24,27,28,32,71,79,87 may be overlooked initially because …

Congenital anomalies of the hand. The Asian perspective.

To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and radial deficiencies, cleft hand, and symbrachydactyly were analyzed in clinical cases. The same anomalies were induced in rat fetuses by busulfan, and their characteristics were investigated. The formation process of longitudinal deficiency also was observed histologically. There seemed to be 4 teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features, and the cause of these deficiencies is related closely to a deficit of mesenchymal cells in the limb bud caused by the impairment before the formation of the limb bud. Cleft hand, central polydactyly, and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Cleft hand formation process from osseous syndactylies and central polydactylies was supposed. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the transverse deficiency can be regarded as equivalent to the category of bony dysplasia of the hand. Congenital constriction ring syndrome does appear after the formation of the digital rays.

Congenital Anomalies of the Elbow Joint: Clinical Features and Classification

AbstractIn order to examine the distribution of different types of congenital anomalies of the elbow joint and discuss their classification, a total of 94 patients, 96 congenital anomalies of the elbow joint, were analyzed. They were classified according to the elbow deformity itself as follows; radio‐ulnar synostosis in 59 cases (61%), radial head dislocation in 23 cases (24%), ankylosis of the elbow joint in eight cases (8%), severe flexion contracture of the elbow joint in three cases (3%), and complete or partial aplasia of the elbow joint in three cases (3%). On the other hand, congenital elbow deformities can be classified into three types according to the associated anomalies. In 78 patients, in which congenital elbow deformity appeared as an independent deformity, there were radio‐ulnar synostosis in 56 patients, radial head dislocation in 19 patients, ankylosis of the elbow joint in two patients, and hypoplasia of trocholea in one patient. In the 13 patients, which congenital elbow deformity appeared as a part of congenital upper limb anomalies, the underlying congenital anomalies of the upper limb were ulnar deficiency in eight patients, radial deficiency in two patients, transverse deficiency in two patients, and phocomelia in one patient. In five patients, elbow deformity appeared as a part of congenital syndromes. Classification according to associated anomalies seems to be more suitable in order to examine the real distribution of different types of congenital deformities of the elbow joint as a part of the upper limb.

Preliminary soft tissue distraction in congenital forearm deficiency

Four patients (five limbs) were treated with preliminary soft tissue distraction using an Orthofix external distractor. The patient's ages ranged from 6 months to 14 years. Forearm deficiencies treated included partial absence of the radius (one patient), radial aplasia (two patients, three limbs), and partial absence of the ulna (one patient). Soft tissue distraction (mean, 55 days) was continued in radial deficiency until the hand could be passively centralized without residual radial deviation, allowing centralization to be accomplished through a single mid-dorsal incision. Mean measurement of distraction for the radial deficiencies was 1 cm. In the ulnar deficiency, soft tissue distraction was carried out until the cut radius was distal to the partially absent ulna (98 days) allowing for the creation of a one-bone forearm using the entire radius. Distraction (1 mm/day) was done by the children's parents with no distractor removed because of patient intolerance. All radial deficiency limbs remained centralized at a mean followup period of 14 months.

Radial clubhand and contralateral duplicated thumb

Although radial deficiencies and radial polydactyly are frequently encountered congenital anomalies, they do not commonly occur together. In contrast to central polydactyly and central deficiency. which are closely associated clinically’ and in experimental studies,2 the concomitant association of radial deficiency and radial polydactyly is rare. Although the two conditions have occurred separately in different members of the same family and in successive generations, 3.4 there are only two previous case report+ in the English literature of a hypoplastic thumb and a contralateral duplicated thumb occurring in the same infant; one was thought to be due to untreated maternal diabetes during pregnancy,5 and no cases demonstrated radius hypoplasia.

Clinical and Experimental Studies on Teratogenic Mechanisms of Congenital Absence of Digits in Longitudinal Deficiencies*

ABSTRACT: In order to clarify teratogenic mechanisms of congenital absence of the digits in longitudinal deficiencies, ulnar deficiency, radial deficiency, central polydactyly, osseous syndactyly and cleft hand (central deficiency) were analyzed. Then, the same anomalies induced in rat fetuses with myleran were analyzed. In ulnar and radial deficiencies, the more severe was the degree of finger deficit, the more severe was the arrest of the forearm bone. The critical periods of these anomalies were earlier than those of other anomalies. Ulnar deficiencies were induced only in Gun: Wistar rats and radial deficiencies only in WKAH/Hkm rats. A genetic factor may influence the teratogenesis of ulnar and radial deficiencies. From histological analysis of tibial deficiency, it may be suggested that the cause of absence of digits in longitudinal deficiency is closely related to a deficit of mesenchymal cells. The analysis of skeletal changes of central polydactylies, osseous syndactylies and cleft hands suggested that there seemed to be the cleft hand formation process from osseous syndactylies and central polydactylies. These anomalies were often observed in both hands in various combinations. They could be induced by the same treatment at the same developmental stage in rats. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate.

A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984.

Radial and tibial deficiencies are frequently (70%) associated with non-limb abnormalities. Isolated radial and tibial deficiencies may have a different etiology: in this study radial deficiencies were more frequent, there were milder subtypes and one-limb involvement was found in 70% of cases, tibial deficiencies were rare, mild subtypes did not occur and in general more limbs were involved. Among multimelic cases, one case had hypoplasia of the tibia with polydactyly and two cases had tibial aplasia with split hand +/- foot of autosomal dominant inheritance. Of 40 cases, four were familial. Findings of a case-control study on this population-based and validated 10-year cohort showed a lower mean birth weight and a higher rate of low birth weight in cases with isolated radial and tibial deficiency.

Arteriographic findings in radial and ulnar deficiencies

The arterial pattern in 13 cases of radial deficiency and six cases of ulnar deficiency was studied by arteriography. The radial artery was absent or hypoplastic in 84.6% of cases of radial deficiency and in 50% of cases of ulnar deficiency. A persistent median artery was seen in 76.9% of cases of radial deficiency and in 16.7% of cases of ulnar deficiency. In 12 hands, the deep palmar arch was small or absent, depending upon the degree of radial arterial dysplasia. The digital artery to the deficient digits was missing in some cases. The persistence of an embryonic vascular pattern in cases of radial deficiency and ulnar deficiency with dysplasia of the ulna suggests that the teratogenic injury may have been simultaneous, whereas ulnar deficiency without dysplasia of the ulna was not associated with arterial abnormalities in the forearm.

The treatment of longitudinal radial deficiency

Absence of the radius is the commonest of the longitudinal deficiencies but is itself quite an unusual congenital anomaly. No one surgeon is likely to encounter the condition more than once or twice in a career and there is a strong case for congenital upper limb conditions to be collected into special clinics. The pathology and methods of surgical treatment are reviewed. It is a difficult condition to treat but there is no doubt that function and appearance can be improved (Pulvertaft, 1973). Pollicisation of the index finger should be considered and can often greatly improve the function.

Experimental study of radial ray deficiency

The teratogenic mechanisms of radial ray deficiency were investigated. Radial ray deficiencies were induced in WKAH/Hkm rat foetuses by maternal administration of myleran on day 10, 10.5, or 11 of pregnancy. The skeletal anomalies in rats were similar to those in human beings, suggesting that exposure to some environmental factors at a sensitive period of embryogenesis may cause radial ray deficiency in humans. Ulnar ray deficiency has also been induced in rat foetuses by maternal administration of myleran, so it is suggested that radial deficiency and ulnar deficiency are caused by a common teratogenic mechanism in humans. However, the critical period for radial deficiency is one day later than that for ulnar deficiency in rats, which may contribute to the greater frequency of radial deficiency than ulnar deficiency in clinical cases.

Radial ray defects and associated anomalies; unique nature of the radial deficiencies and facial dysmorphism in the TAR syndrome

Clinical GeneticsVolume 37, Issue 1 p. 78-79 Radial ray defects and associated anomalies; unique nature of the radial deficiencies and facial dysmorphism in the TAR syndrome Anthony Lipson, Corresponding Author Anthony Lipson1 Genetics and Dysmorphology Unit The Royal Alexandra Hospital for Children Pyrmont Bridge Road Camperdown Sydney 2050 AustraliaSearch for more papers by this author Anthony Lipson, Corresponding Author Anthony Lipson1 Genetics and Dysmorphology Unit The Royal Alexandra Hospital for Children Pyrmont Bridge Road Camperdown Sydney 2050 AustraliaSearch for more papers by this author First published: January 1990 https://doi.org/10.1111/j.1399-0004.1990.tb03395.xCitations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume37, Issue1January 1990Pages 78-79 RelatedInformation

Long-term review of the surgical treatment of radial deficiencies

Sixty-four patients with 101 radial deficiencies form the basis of this review of anatomy, treatment, and long-term follow-up. Average follow-up was 8.6 years, with a range of 1 to 27 years. A radiologic classification of radial deficiencies is presented. The preferred method of treatment is centralization. The goal is to create a centralized, cosmetically and functionally improved hand, yet maintain wrist motion. There were 21 good, 20 satisfactory, and 10 unsatisfactory results. Good and satisfactory results all had adequate preoperative stretching, proper surgical technique, and postoperative brace compliance. Failure to adhere to outlined principles of soft tissue release and adequate centralization resulted in the unsatisfactory results.