UNASSIGNED: This study examines the value of a new alphanumerical documentation system to classify the whole spectrum of deformities in ulnar longitudinal deficiency (ULD).
UNASSIGNED: The patients with ULD, whom were referred during a 35-year period, were identified from the hospital database. A total of 7 patients with photographs and/or conventional radiographs that could be adequately reproduced were enrolled in the study.
UNASSIGNED: Six patients could be classified with the previously proposed classifications and the new documentation system. Three of them were diagnosed with ulnar-deficient hands. One had aplasia of the fifth finger ray (phalanges and metacarpal), a second aplasia of the fourth and fifth finger rays with narrowing of the first web, and a third aplasia of the fifth metacarpal. Furthermore, a fourth patient was diagnosed with hypoplasia of the ulna and congenital wrist amputation; a fifth with hypoplasia of the ulna, dislocation of the radial head, and a bowed radius; and a sixth with partial aplasia involving the middle and distal diaphysis of the ulna. Finally, one patient with an absent ulnar styloid process and oligodactyly with thumb could be classified only with the new system.
UNASSIGNED: The proposed new alphanumerical documentation system incorporates all the most widely accepted previous classification schemes, facilitates the morphological and radiographic description of the whole spectrum of the deformities detected in patients with ULD for better communication between scientists, and secures the unrestricted inclusion of new variants in the future.

BACKGROUND: Phenotypic differences and functional limitations in children with congenital radial and ulnar longitudinal deficiencies (RLD/ULD) are well understood for the forearm and hand. However, anatomical features of shoulder elements in these pathologies have only been scarcely reported. Moreover, shoulder function has not been assessed in this patient population. Therefore, we aimed to define radiologic features and shoulder function of these patients at a large tertiary referral center.
METHODS: We prospectively enrolled all patients with RLD and ULD (minimum age: 7 years) for this study. Eighteen patients (12 RLD, 6 ULD) with a mean age of 17.9 years (range, 8.5-32.5) were evaluated using clinical examination (shoulder motion and stability), patient-reported outcome measures (Visual Analog Scale, Pediatric/Adolescent Shoulder Survey, Pediatric Outcomes Data Collection Instrument), and radiologic grading of shoulder dysplasia (including length and width discrepancy of the humerus, glenoid dysplasia in the anteroposterior and axial view [Waters classification], and scapular and acromioclavicular dysplasia assessment). Descriptive statistics and Spearman correlation analyses were performed.
RESULTS: Despite five (28%) cases having anterioposterior shoulder instability and five (28%) cases with decreased motion, outcome scores indicated an overall excellent function of the shoulder girdle, with mean Visual Analog Scale of 0.3 (range, 0-5), mean Pediatric/Adolescent Shoulder Survey of 97 (range, 75-100), and mean Pediatric Outcomes Data Collection Instrument Global Functioning Scale of 93 (range, 76-100). The humerus was, on average, 15 mm shorter (range, 0-75), and metaphyseal and diaphyseal diameters both reached 94% of the contralateral side. Glenoid dysplasia was detected in nine (50%) cases, with increased retroversion evident in 10 (56%) cases. However, scapular (n = 2) and acromioclavicular (n = 1) dysplasia were rare. Based on radiographic findings, a radiologic classification system for dysplasia types IA, IB, and II was developed.
CONCLUSIONS: Adolescent and adult patients with longitudinal deficiencies exhibit various mild-to-severe radiologic abnormalities around the shoulder girdle. Nevertheless, these findings did not seem to negatively affect shoulder function as the overall outcome scores were excellent.

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.

Congenital limb reduction defects affect 1 in 1,900 babies born in the US. Limb reduction refers to the shortening or total absence of a limb or a specific segment of a limb. Congenital deficiencies of the upper limb are the most common location and comprise 58.5% of newborn limb reduction deficiencies. Longitudinal deficiencies affect the long axis of the limb and can affect one bone predominantly or can be hypoplasia or aplasia of several bones. To our knowledge, this case is a unique discussion of a baby born with longitudinal ulnar deficiency without any other commonly seen associated syndrome.

The creation of a single-bone-forearm is a salvage procedure to stabilize the forearm. The purpose of this study was to investigate clinical outcomes and how these patients compensate for the lack of forearm rotation. We evaluated four patients (three children, one adult) who had undergone single-bone-forearm surgery. Patients were examined clinically and with three-dimensional motion analysis. We found these patients are generally capable to perform important activities of daily living (e.g. glass jug pouring), which would normally need forearm rotation. Motion analysis revealed remarkable compensatory motion at other joints during these activities. We conclude that patients with a single-bone-forearm can maintain a certain level of daily activities by using compensatory motions at other joints, although the time needed to complete the tasks may be longer. Level of evidence: IV.

Ulnar longitudinal deficiency (ULD) is a rare congenital disease of the upper limb. The deformities caused by ULD can be very challenging and may compromise hand function during daily activities. Although the first surgical intervention dates back to the year 1952 there is still no gold standard for treating this uncommon disorder. Two children aged 16 and 3 years with ULD Bayne Type II (partial ulna aplasia) were diagnosed and treated at our department with single bone forearm surgery to achieve stability and improve function using a modified surgical method. For the purpose of an additional gain in limb length and improved cosmesis we used an Ilizarov external fixator for soft tissue distraction including radius distalization prior to the creation of the single bone forearm. This new technique and results are presented and discussed.

Oligodactyly of the hand is one of the rarest congenital anomalies of upper extremities and defined as the presence of fewer than five fingers on a hand. Although it usually occurs in association with hypoplasia or absence of ulna, it can occur without abnormality of the forearm bones. The purpose of this study is to present clinical features and radiographic characteristics of hand oligodactyly with thumb.
Five patients of oligodactyly with thumb who showed normal forearm bones, were evaluated. Two patients had threefingered hand with thumb, and three had two-fingered hand with thumb. We analyzed associated abnormalities of carpal and metacarpal bones and measured the lengths of radius and ulna, and width of the wrist on the simple radiographs. We also devised new classification system of oligodactyly based on the thumb deformities and locations of missing digits.
Syndactyly among fingers was associated in four patients, clinodactyly caused by delta bone in one, hypoplasia of the thumb in one, camptodactylies in one, symphalangism in one, and radial head dislocation in one. Considering the abnormalities of the carpal bones, the missing digits were presumed to be ulnar-sided digits in two patients, central digits in one patient and both ulnar-sided and central digits in two patients. In patients with missing of central digits, an adjacent metacarpal was hypertrophied. Although the ulnar variances were within normal range, the average lengths of radius and ulna were 6% and 5% shorter than those of contralateral normal side. The average width of the wrist was 9% narrower than that of contralateral normal side.
Syndactyly and hypertrophied metacarpal were most commonly observed findings in the oligodactyly with thumb. Although oligodactyly with thumb may be a type of ulnar longitudinal deficiency, however, it can also be a type of central deficiency or combined type of ulnar longitudinal deficiency with central deficiency or radial longitudinal deficiency. We suggest a classification system of oligodactyly with thumb based on locations of missing digits and associated thumb deformities.

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Radial, ulnar, and central deficiencies represent a spectrum of abnormalities in the development of the upper limb. Radial longitudinal deficiency is often associated with abnormalities in other organ systems, such as cardiac and renal, and so requires a comprehensive medical evaluation. On the other hand, ulnar longitudinal deficiency tends to be associated only with other musculoskeletal abnormalities. In all of these conditions, there is a high incidence of ipsilateral thumb abnormalities. Given the importance of the thumb in overall hand function, abnormalities of the thumb often guide treatment for these conditions. Surgical treatment of the wrist and forearm in radial longitudinal deficiency is controversial, as will be outlined in this review.