Ulnar longitudinal deficiency (ULD) is a rare skeletal condition marked by the partial or complete failure of the formation of the ulna. This rare condition is often associated with fixed flexion deformity, radial head subluxation, complex carpal, metacarpal, and digital abnormalities. Most presentations are male-preponderant and right-sided. Different classifications have described ULD. Usually, the condition is not associated with systemic findings; however, detailed physical examination and radiologic evaluations are crucial for assessing and managing affected patients. We report a rare case of ULD in an 11-month-old female infant with congenital absence of the left ulna, four digits, and a postaxial hypoplastic finger.

OBJECTIVE: Publications evaluating the results of the ulna lengthening in congenital radial deficiency are based only on small groups of subjects which yield statistical studies of low scientific value. The aim was to examine the effectiveness of ulna lengthening in radial longitudinal deficiency and determine the number and quality of complications based on one of the most numerous study groups described in the literature.
METHODS: The material consists of a study group with 31 upper limbs of unmatured patients diagnosed with type III and IV radial longitudinal deficiency. The study group was evaluated based on the parameters known from the literature. The difficulties during elongation were classified according to Paley\'s classification.
RESULTS: The study group contained patients with a mean age of 9 years, and the number of boys and girls was comparable. Ulna length significantly increased after elongation compared to the initial bone length. The patient\'s age didn\'t affect the ulna lengthening, and the amount of elongation didn\'t significantly affect the total stabilization period. However, the total stabilization time increased with increasing patient age. Difficulties affected more than half of the cases.
CONCLUSIONS: Ulna elongation in congenital radial deficiency results in significant lengthening of the ulna, and thus the entire forearm, compared to the initial bone length. This technique has a high percentage of difficulty, so its use should be considered after cautious discussion with the parents and patients.

To report the histopathological, electron microscopic, and immunohistochemical findings of tissue samples obtained from patients with radial longitudinal deficiency (RLD) and investigate the contribution of abnormality in soft tissues as a secondary driver of deformity in RLD.
Specimens from radial-sided muscles and tendons were obtained at the time of surgery (either radialization or centralization) from 14 patients with 16 limbs affected with Bayne type 3 and type 4 RLD. The specimens were evaluated using light microscopy, electron microscopy, and immunohistochemical examination.
Among the 16 frozen muscle specimens, 6 (37%) showed normal muscle, while 10 (63%) showed the presence of atrophic fibers. The 6 cases with normal muscle showed no abnormality in fiber type distribution. Six patients showed predominance of type 1 muscle fibers. None of the specimens had myofibroblasts; 4 of 16 specimens had mast cells, and 9 of 16 specimens showed the presence of platelet derived growth factor-positive cells. Features of myofibroblasts (the presence of basal lamina, intercellular junctions, or pinocytic vesicles) were not identified in any specimen on electron microscopy.
The histopathological, electron microscopic, and immunohistochemical findings, in particular the absence of myofibroblasts, in tissue samples obtained from patients with RLD, do not support the assumption of abnormality in soft tissues as a secondary driver of deformity in RLD.
This study provides a preliminary insight into a possible role of soft tissues in the development of the deformity in RLD.

Holt-Oram syndrome (HOS) is a rare, genetic condition characterized by the combination of congenital heart defect and hypoplasia in one or both upper extremities. Children with HOS commonly present with varied joint and limb involvement including radial longitudinal deficiency impacting hand function. Evidence-based guidelines regarding orthotic wear and therapeutic techniques are lacking.
The aim of this case report was to present the results of a long-term occupational therapy program for a patient with HOS pre and postpollicization.
Case report.
A 4-month-old patient with bilateral radial longitudinal deficiencies began outpatient occupational therapy for custom orthosis fabrication and treatment which included long term clinic and home-based intervention. Techniques included passive range of motion, orthosis wear, therapeutic taping, and modified constraint induced movement therapy. Longitudinal assessment of musculoskeletal alignment and functional hand use was performed using goniometry for passive and active range of motion, the Assisting Hand Assessment (AHA), and The Thumb Grasp and Pinch Assessment (T-GAP).
Improvement in passive and active range of motion was achieved as well as improved activity level function as measured by the AHA and T-GAP postpollicization and intervention.
A combined clinic and home-based therapeutic approach can be effective for children with HOS to improve alignment and function pre and postpollicization to further enhance hand function. Comprehensive, long-term assessment is necessary to fully evaluate and communicate improvement.

To investigate morphologic hand anomalies in children with severe but unclassifiable forms of thumb hypoplasia and radial-sided hand deficiency.
We identified 15 extremities in 13 patients with severe thumb hypoplasia and associated absent radial-sided digits through the Congenital Upper Limb Differences registry. All patients had forearm involvement. Medical records, clinical photographs, and radiographs were evaluated. Radial longitudinal deficiency (RLD) and thumb hypoplasia were classified according to the Bayne and Klug classification and modified Blauth classification, respectively. Unusual or defining associated hand characteristics were identified and categorized.
The most common type of forearm abnormality was absence of the radius (Bayne and Klug type IV), which was present in 10 extremities in the cohort. All 15 extremities had absent thumbs with loss of additional digits. In 6 patients, RLD was part of a syndrome (46%).
Severe forms of thumb hypoplasia in RLD are uncommon. We propose a further modification of the Blauth classification of thumb hypoplasia, type VI, for improved communication regarding this severe type of radial deficiency involving the hand.
Diagnostic IV.

The treatment of radial longitudinal deficiency (RLD) is highly variable without clear guidelines in the literature. The current study investigated variability among hand surgeons in treatment approaches for RLD patients with anomalies of the thumb and forearm.
An online survey was distributed to 105 self-identified North American pediatric hand surgeons and 23 international pediatric hand surgeons. The survey was developed after consideration of the controversies in RLD treatment. Variations in diagnostic approach, timing of treatment, surgical indications, and surgical techniques were presented in a 21-question survey.
Seventy-four (57.8%) surgeons completed the survey. For type 2 hypoplastic thumb reconstruction, 81% of surgeons prefer the flexor digitorum superficialis transfer with others using the abductor digiti minimi transfer. Ninety-four percent and 100% of surgeons favored pollicization for type 3B and type 4 hypoplastic thumb, respectively. When performing pollicization, 88% of surgeons strive for tip-to-tip pinch, with 50% preferring 100° rotation and 38% greater than 120°, compared with 12% who preferred tip-to-side pinch. Nearly half of surgeons stated they would not recommend pollicization for a patient with a stiff index finger who utilizes ulnar prehension. Ninety percent of surgeons preferred observation for a type 1 radius. Type 2 treatment preferences were highly variable, the most common response being radius lengthening. For type 3/4 radius deficiency, surgeons were divided between soft tissue release with bilobed flap and centralization (42% and 36%, respectively). If radial deviation could not be passively corrected, 63% preferred an external fixator for soft tissue distraction before centralizing. Ulnar prehension functional pattern changed treatment for 45% of surgeons in type 3/4 radius.
This study provides information on areas of agreement and disagreement in the treatment of RLD. Specifically, there was consensus for treatment of types 3B and 4 thumbs and type 1 radius. Consensus was lacking for the amount of rotation in positioning of the pollicized digit, the role of pollicization with the stiff index finger, and also in the treatment of types 2, 3, or 4 radius.
This study provides a framework to establish treatment guidelines for thumb hypoplasia and RLD and has identified areas lacking consensus and that require additional study.

Radial longitudinal deficiency represents a spectrum of musculoskeletal hypoplasia and dysplasia affecting the upper limb involving mainly the radial aspect of the forearm, wrist, and hand and not infrequently the proximal arm. 2/3rd of the patients with this condition suffer from an associated medical or musculoskeletal disorder and 1/3rd of them show features of a well-known syndrome with systemic manifestations. Hence it is mandatory to do a detailed clinical, radiological and laboratory evaluation which should also include genetic counselling and assessment. Its management has evolved greatly since the beginning of last century. The vast variations developed for the treatment only reflects on the persisting controversy on the ideal treatment which still eludes the medical fraternity. Current treatment options for wrist deformities include radialization or centralization with or without distraction which unfortunately has often shown poor outcomes with high rates of recurrence and poor growth of ulna leading some workers to suggest alternative techniques, which include microsurgical reconstruction using the proximal fibula and the second toe. The management of the associated hypoplastic thumb has been encouraging with recent improvements in classifications and increased options for milder deformities. The article reviews the management options available for this common condition with respect to the recent developments in literature.

Radial longitudinal deficiency is a rare skeletal anomaly characterized by a defect in the development of structures that form the radial half of the forearm. The disorder is associated with a large spectrum of preaxial abnormalities. It is shown that the thumb and preaxial carpal bones are almost always hypoplastic or absent in almost all types of radial longitudinal deficiency. Congenital dislocation of the dysplastic radial head may accompany this rare deformity. Herein, we present a 20-year-old male patient with radial longitudinal deficiency who had a markedly hypoplastic radius but had a thumb and carpal bones with normal size, shape, and joint relations. Further, the right radial longitudinal deficiency of our patient was unusually accompanied by left congenital radial head dislocation. Our case shows that, although rare, radial longitudinal deficiency can present without any carpal and thumb abnormalities. And the current case also shows that a contralateral sided congenital radial head dislocation may accompany radial longitudinal deficiency.

暂无摘要。

Radial longitudinal deficiency is a spectrum of deformity ranging from thumb hypoplasia to a shortened or absent radius. Traditional treatments are hindered by recurrent deformity and disruption of future forearm growth. These deficiencies can be addressed by a Vilkki procedure in which a free second toe metatarsophalangeal joint is used to restore a radial column and provide viable physes for continued forearm growth. A classic Vilkki procedure positions the proximal toe metacarpal on the native ulna to create a Y-shaped one-bone forearm. We report a case of a modified Vilkki procedure in which a 2-bone forearm is created using the proximal toe metacarpal to reconstruct the entire radius. In patients with type III radial longitudinal deficiency with suitable residual radius length, the modified Vilkki procedure can allow reconstruction of a 2-bone forearm. This affords the patient correction of the pathoanatomy and the potential for balanced growth and pronosupination.