Characteristics of patients with hypoplastic thumb: a prospective study of 51 patients with the results of surgical treatment

The aim of this study was to characterize a group of patients with hypoplasia of the thumb, classifying them, describing the associated anomalies and to evaluate the results of surgical treatment of such cases. Thumb hypoplasia is a complex and heterogeneous congenital disorder that is detrimental to hand functions. The characteristics of patients with these anomalies are not well described in the literature. A prospective study on 51 patients with 82 hypoplastic thumbs was done. All the patients' data regarding their personal, family, pregnancy and developmental histories were recorded. All the patients were exposed to thorough clinical examination with genetic assessment and radiological examination including abdominal ultrasonography and echocardiography when requested by the paediatrician. The cases were classified using the modified Blauth classification into five types and we added the five-fingered hand. Surgical treatment was performed for 26 hands in 18 patients and the postoperative results were recorded with an average duration of follow-up of 38.6 months. Of the 51 patients, there was a positive consanguinity in 23.5%. Eighty-six per cent were found to have associated anomalies. Type V thumb hypoplasia was the most common type followed by type IV, with type I being the least common. All the patients' parents were satisfied with the results of surgical treatment and noticed improvement of the performance of the operated hands in the daily activities. We detected some anomalies that have never been described before or described as case reports only; such as lacunar skull, congenital facial palsy and toe amputation; we also described familial radial side dysplasia with variable presentation of congenital anomalies of the thumb in the families. In addition, we think that the five-fingered hand should be added to the classification of thumb hypoplasia. Our study agrees with the literature regarding the distribution of different types of hypoplasia of the thumb, the incidence of associated anomalies and the results of surgical treatment.     

Surgical reconstruction of congenital thumb hypoplasia

This review article introduces a new classification of congenital hand anomalies. It then considers the classification of congenital thumb hypoplasia and describes the the authors indications for surgery. Specifically, attention is directed towards surgical techniques and problems encountered in the reconstruction of grade 2 hypoplastic thumbs and in pollicisation of the index finger for grades 3, 4 and 5 thumb hypoplasia.KEY WORDS: Congenital thumb hypoplasia, Surgical reconstruction     

Surgical management of the Blauth 1 to 3A thumb hypoplasia

Thumb hypoplasia is a sequence of congenital abnormalities, from minor hypoplastic thumb with a preserved function to complete thumb aplasia. We only discuss in this chapter on the management of the thumb hypoplasia type 1 to 3A according to the modified Blauth's classification. Their common feature is the conservative treatment, in opposition with severe hypoplastic thumbs usually treated by index pollicisation. Whatever is the degree of hypoplasia, patients should be carefully examined for bilaterality, other anomalies and syndrome. Surgical treatment, when indicated, requires systematically widening of the first web space, stabilization of the metacarpophalangeal joint and restoration of opposition and extension. Reconstruction of the infant thumb should be started in the first year of life. Functional result depends on the degree of hypoplasia and differs dramatically whether if the thumb hypoplasia is isolated or associated with a radial club hand.     

Congenital thumb deformities

The congenital deformities that affect the thumb are reviewed in terms of the clinical problem, the type of inheritance involved, the associated abnormalities seen with the particular deformity, and the indications for surgical treatment. The thumb is often the key to establishing the diagnosis of many rare syndromes. The congenital thumb may be classified for easy identification by pediatricians, family doctors, and hand surgeons as follows: inadequate thumb, fingerlike thumb, contracted thumb, crooked thumb, extra thumb, and unusual thumb.     

Conduite à tenir devant une hypoplasie du pouce de type 1 à 3A

Thumb hypoplasia is a sequence of congenital abnormalities, from minor hypoplastic thumb with a preserved function to complete thumb aplasia. We only discuss in this chapter on the management of the thumb hypoplasia type 1 to 3A according to the modified Blauth’s classification. Their common feature is the conservative treatment, in opposition with severe hypoplastic thumbs usually treated by index pollicisation. Whatever is the degree of hypoplasia, patients should be carefully examined for bilaterality, other anomalies and syndrome. Surgical treatment, when indicated, requires systematically widening of the first web space, stabilization of the metacarpophalangeal joint and restoration of opposition and extension. Reconstruction of the infant thumb should be started in the first year of life. Functional result depends on the degree of hypoplasia and differs dramatically whether if the thumb hypoplasia is isolated or associated with a radial club hand.     

Multi-axial correction system in the treatment of radial club hand

Background

Radial club hand is a well-recognized congenital malformation characterized by hypoplasia of bone and soft tissue on the radial aspect of the forearm and hand. The modalities of treatment have traditionally varied from stretching casts with soft-tissue procedures to the use of multiple corrective osteotomies. These osteotomies can be stabilized by a variety of methods, including external fixators that allow the possibility of gradual distraction with neohistiogenesis. This current study outlines the usage of one such device (multi-axial correction system [MAC]) in the management of deformity associated with severe radial club hand.

Methods

Three consecutive cases of unilateral or bilateral severe (Bayne type IV) congenital radial club hand were corrected using MAC fixation in the last 5 years. This is a retrospective review of all three cases. Data parameters included: patient demographics, presentation findings, degree of deformity, amount of correction/lengthening, length of procedure, length of treatment, and associated complications. The surgical technique is described in detail for the benefit of the readership.

Results

The three patients with severe congenital radial club hand had a total of four limb involvements that underwent correction using osteotomies and usage of the MAC device for external fixation. All three patients underwent successful correction of deformity with the restoration of alignment, lengthening of forearm for improvement of function, and stabilization of the wrist (mean duration, mean lengthening, mean time to consolidation). The MAC system was well tolerated in all patients and associated complications were limited.

Conclusion

The MAC fixator seems to be a good alternative modality of stabilization and correction for severe congenital radial club hand deformities. Its usage is fairly simple and it provides the ease of application of a mono-lateral fixator with far superior three-dimensional control, like the circular external fixator. We recommend that clinicians should add this modality to their armamentarium for the deformity correction of severe radial club hand and others in general.     

Pollicization of the index finger in hypoplasia of the thumb. Experience with the method of Buck-Gramcko and retrospective analysis of the clinical outcome in a series of 19 pollicizations

Background

In congenital malformation of the thumb index finger pollicization is a proven method for constructing a new thumb all over the world.

Methods

A series of 19 pollicizations in 15 patients is presented. In all cases of index finger pollicization the method of Buck-Gramcko is used and the functional outcome is evaluated after Percival’s method. Three special cases are described in detail and the preoperative evaluation with a CT-angiography in cases of complex malformations (case 3) for better planning of the surgical steps is recommended. The importance of parent’s information soon after giving birth to a child with thumb hypoplasia is described in detail as the postoperative management.

Results

In children with bilateral deformities of the hand the surgery can be performed in one session, in only 2 cases a second operation was necessary. The postoperative results were excellent and good (Percival’s measurement) and the children are now able to perfectly use their affected hand in their day-to-day activities.

Conclusion

Buck-Gramcko’s method of pollicization in congenital thumb malformation gives excellent results. The preoperative planning and exactly following the four key steps is as important as the postoperative management.     

Congenital isolated upper limb hypertrophy with hand abnormality--a report of 2 cases

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.     

Congenital flexion deformities of the thumb

A congenital flexion deformity of the IP joint of the thumb is usually due to a trigger finger. The diagnosis is based on the thumb being normal except for a fixed, flexed posture of the IP joint and a palpable nodule in the FPL tendon at the level of the A-1 pulley. Treatment can be postponed until after age 1, as spontaneous regression probably occurs in about 30 per cent of cases. After that age, surgical correction is the best approach to treatment and usually results in normal thumb function. Congenital soft tissue flexion deformities of the MP joint of the thumb vary from passively correctable deformities due to loss of extensor power to severe, fixed contractures involving multiple thumb structures and associated with significant anomalies of the wrists and fingers. The passively correctable deformities will frequently respond to cast immobilization in the very young but can otherwise be treated by an appropriate tendon transfer to re-institute active extension. Complex clasped thumb deformities require elucidation of the specific pathologic features of the deformity, based both on clinical evaluation and surgical exploration. These digits will require not only an extensive release to correct the fixed contracture but also reconstructive procedures to correct lax ligaments and to substitute for absent muscles and skin as appropriate. The latter deformities are often associated with a syndrome affecting numerous body structures. It is hoped that recognition of these syndromes and documentation of the pattern of pathology present in these thumbs will result in a better method of classification.     

Rhizarthrosis fourth grade of eaton with hyperextension of the metacarpophalangeal joint

INTRODUCTIONRestoration of thumb function with a painfree, stable, and mobile joint with preserved strength are the main goals of treatment of painful arthritis of the thumb. We present our clinical experience in surgical treatment of this disease, in its highest degree of affectation.PRESENTATION OF CASEA 57-year-old woman presents with a 2-year history of worsening pain at the base of her right, dominant, trapezial-metacarpal (TM) joint. Her thumb metacarpophalangeal (MCP) joint hyperextends 30° with lateral pinch. Radiographs demonstrate Eaton stage IV degenerative changes of her TM joint and no arthritis of her thumb MCP joint. She was successfully treated with a modified Burton–Pellegrini arthroplasty and sesamoidesis to the metacarpal head.DISCUSSIONIn cases of advanced rhizarthrosis conventional surgery does not serve to correct deformities of the metacarpophalangeal joint that may affect to the postsurgical outcomes.CONCLUSIONrhizarthrosis management must be carried out in a global way. When a surgical treatment is planned, all deformities must be taken into account.     

上海市新生儿先天性手畸形发病调查

１９８４年，参照国际手外科协会确定的七类先天性手畸形的分类标准，对上海市区３１８０６６个新生儿进行了先天性手畸形的发病调查。结果发现，上海市区先天性手畸形的发生率为０．０８０８％，拇指先天胜畸形在手的先天畸形中发生率最高，占３７．７４％。     

Assessment of the severity of curly toe

BackgroundCurly/underlapping toe involves flexion, adduction, and varus deformity of the interphalangeal joints. There are no previous reports showing the relationship between physical examination and X-ray findings among patients with curly toe deformity.MethodsWe investigated the clinical findings of 116 consecutive patients associated with 239 underlapping toes. We compared the age and affected toes between patients whose deformities were pointed out at a pediatric medical examination (group 1) and those referred for medical treatment (group 2). The degree of curly toe deformity was graded by a physical examination and X-ray.ResultsThe average age at presentation was 2.7 years. The affected toes were significantly different between groups 1 and 2 (p < .001). The morbidity of each toe differed significantly in group 2 (p < .005) but not in group 1. The correlation between the appearance grading and classification by X-ray was very strong using Spearman's rank correlation coefficient. The severity of curly toe was divided into mild in 104 toes, moderate in 105 toes, and severe in 17 toes. The methods of conservative treatment were observation only in 15 cases, manipulations in 30 cases, taping in 67 cases, and a brace in 9 cases. Surgery was performed in 8% of cases.ConclusionCurly toe deformity of the third or fourth toes tend to be referred for medical treatment because of the abnormality. Our grading system using a physical examination and classification by X-ray was useful for assessing the severity of curly toe.     

Pollicization of the index finger for radial hypoplasia

Background

Associated with anomalies such as VACTERL and Fanconi anemia, congenital hypoplasia of the thumb has a strong association with radial hypoplasia. The majority of patients have bilateral thumb underdevelopment, and those that have a unilateral deformity tend to have the right hand more commonly affected. In order to gain an opposable thumb, patients with a deficient carpometacarpal (CMC) joint, a floating thumb, or complete absence of the thumb can benefit with a thumb amputation and a translocation of the index finger (pollicization) to the thumb position. This video demonstrates the technical steps involved in performing a pollicization procedure in a patient with radial hypoplasia. The video is available electronically.

Methods

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008 (5). Informed consent was obtained from all individual participants included in the video. The authors declare that they have no conflict of interest.

Results

Pollicization allows for improved functional results in patients with radial hypoplasia.

Conclusions

This video has reviewed the essential steps in performing a pollicization procedure in patients with radial hypoplasia.

Electronic supplementary material

The online version of this article (doi:10.1007/s11552-014-9693-z) contains supplementary material, which is available to authorized users.     

Carpal coalition: a rare coincidence with hand deficiencies

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.     

Changing Paradigms in the Treatment of Radial Club Hand: Microvascular Joint Transfer for Correction of Radial Deviation and Preservation of Long-term Growth

Radial longitudinal deficiency, also known as radial club hand, is a congenital deformity of the upper extremity which can present with a spectrum of upper limb deficiencies. The typical hand and forearm deformity in such cases consists of significant forearm shortening, radial deviation of the wrist and hypoplasia or absence of a thumb. Treatment goals focus on the creation of stable centralized and functionally hand, maintenance of a mobile and stable wrist and preservation of longitudinal forearm growth. Historically centralization procedures have been the most common treatment method for this condition; unfortunately centralization procedures are associated with a high recurrence rate and have the potential for injury to the distal ulnar physis resulting in a further decrease in forearm growth. Here we advocate for the use of a vascularized second metatarsophalangeal joint transfer for stabilization of the carpus and prevention of recurrent radial deformity and subluxation of the wrist. This technique was originally described by the senior author in 1992 and he has subsequently been performed in 24 cases with an average of 11-year follow-up. In this paper we present an overview of the technique and review the expected outcomes for this method of treatment of radial longitudinal deficiency.     

Pollicization of Middle Finger in a Cleft Hand Associated with Acrorenal Syndrome

Introduction  Acrorenal syndrome is autosomal recessive inherited disorder commonly associated with congenital renal disorders and ipsilateral hand/foot anomalies. The hand and foot deformities corrections are challenging to achieve a good functional and cosmetic result. We described a case of acrorenal syndrome with suppressed radial elements and absent thumb in whom we were able to reconstruct the hand. Case Report  A 5-year-old girl presented to us with right renal agenesis and right hand/foot deformity. The hand showed a cleft hand with central deficiency, index finger hypoplastic, and syndactylyzed to middle finger, absent thumb. The hand was nonfunctional because of absent thumb. To improve the functions, it was decided to proceed with thumb reconstruction. The middle finger was pollicized to regain tripod grip and thereby the functions was enhanced. Discussion  The cleft hand belongs to “failure of finger ray induction group” in classification by “International Federation of Societies for Surgery of the Hand (IFSSH).” Absence of thumb and first web space makes it a strong indication for surgical reconstruction. In our case, thumb was addressed by pollicization of middle finger and we were able to provide a good tripod grip.     

Hand deformities in Freeman-Sheldon syndrome and their surgical treatment

The Freeman-Sheldon-Syndrome is a rare complex of malformations with typical deformities of face, hands and feet. The individual variability of the characteristics seems to be very big, as could see in our own patients (9 cases) as well as in literature (43 cases). The most frequent and most important characteristics are discussed, mainly the deformity of the hand. Six hands have been operated on for functional improvement; different methods were used. The primary objective of our treatment was the correction of thumb deformity.     

Morphological alterations of oto-mandibular syndromes]

Otomandibular dysplasia is a congenital malformation defined by a certain degree of temporomandibular or pterygomandibular hypoplasia. The syndrome is characterised by the variability of clinical findings, but the three major features are auricular, mandibular and maxillary hypoplasia. All the laterofacial structures may be affected. The deformity is usually unilateral but bilateral cases exist; a lot of associated malformations have been described. Multiple classification systems have been published. Some of them are very complex, but it is possible to define a simple diagnostic diagram based on ethiopathogenic data. Bilateral involvement affects predominantly the zygoma, and concerns hereditary syndromes. When the mandibular hypoplasia is evident Franceschetti or Goldenhar syndrome is suspected; otherwise Treacher-Collins syndrome is probable. Unilateral cases are not, in general, hereditary and the hypoplasia predominates on the mandible. The difference between hemifacial microsomia or mandibular dysplasia is made by the presence of associated laterofacial deformities.     

复拇指畸形治疗中骨关节的处理

目的 报告复拇指畸形治疗中骨关节的处理疗效.方法 对52例65指复拇指畸形的患者,针对不同类型,采用截骨关节矫形、侧副韧带肌腱修复重建和指套状瓣修复存留指等方法进行治疗,术后随访观察拇指关节外形和功能恢复情况.结果 术后随访到38例47指,随访时间为5个月至9年,其中4例4指术后出现不同程度的畸形,经过2次手术后,得到良好矫正.其余43指,术后拇指外形和功能均得到了明显改善,优良率为91.5%.结论 复拇指畸形治疗中,关节的处理是矫形手术的关键,如处理不当会导致术后继发性畸形.