Ulnar Longitudinal Deficiency Research Articles

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case.

Lipomyelomeningocele associated with an ulnar club hand in the spectrum of VACTERL association ([costo-]vertebral abnormalities; anal atresia; cardiac defects; tracheal-esophageal abnomalities, including atresia, stenosis, and fistula; renal and radial abnormalities; limb abnormalities; single umbilical artery) is a very rare and infrequently reported phenomenon. Within the fat mass of the lipoma, it is not common to find a well-defined cartilaginous mass with no attachments to the surrounding tissue. The authors present the case of a 3-month-old male with low-back swelling that was off-center to the left, accompanied by a left short forearm displaying outward bowing. Echocardiography showed an atrial septal defect. This rare VACTERL association comprises lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency syndrome. During surgical intervention for the lipoma, a well-defined cartilaginous mass was discovered within the adipose tissue. The manifestation of VACTERL association can be partially explained by the Shh/Gli and Wnt pathway defects. It is prudent to screen children with neural tube defects to be aware of any associated syndromes. This case is very rare, and the literature has contained no prior report on the VACTERL association of lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency.

Special case of bilateral postaxial longitudinal deficiency in a 3-year-old child

Introduction: Considering the variety of their clinical, radiological, and etiological manifestations, congenital abnormalities of the upper limbs represent complex diseases. They can be separated into brachydactyly, duplication, differentiation failure, and training failure. Ulnar longitudinal deficiency, a deformity that belongs to the first group and is uncommon, manifests differently in the forearm and the hand. Postaxial longitudinal deficiency and unilateral radial humerus synostosis are common diagnoses. Case Report: We present a case of a 3-year-old boy who had radio-humeral synostosis on the right side along with a typical congenital failure of longitudinal bilateral ulnar development. Conclusion: While traditional radiography still plays a significant role in diagnosis and prognosis, ultrasonography and magnetic resonance imaging (MRI) will soon be valuable diagnostic tools. Each case is different, and the treatments and the time of surgery are specific, the optimal treatment remains the prosthetic door; however, the placement of a prosthetic on a sensitive member requires early intervention of the patient and his family.

The Oberg, Manske, and Tonkin Classification of Congenital Upper Limb Anomalies: A Consensus Decision-Making Study for Difficult or Unclassifiable Cases

An ideal classification system promotes communication and guides treatment for congenital upper limb differences (CULDs). The Oberg, Manske, and Tonkin (OMT) classification utilizes phenotypic presentation and knowledge of developmental biology for the classification of CULDs. In this consensus decision-making study, we hypothesized that CULDs that are difficult to classify would be identically classified by a group of experienced pediatric hand surgeons. An international consortium of 14 pediatric hand surgeons in 3 countries contributed a group of 72 difficult-to-classify CULD cases. These were identified from the clinical practices of the surgeons and from associated registries. Through a Delphi-type process, repeated efforts were made to obtain consensus for the correct OMT classification of each case utilizing clinical images and radiographs. The first round of discussion yielded a universal consensus for 57 cases. The remaining 15 cases continued to be put through additional rounds of the Delphi-type process. The repeat classification and discussion resulted in a final yield of 93% complete consensus in classification by the OMT. The primary challenge in diagnosis was differentiating cleft hand from ulnar longitudinal deficiency, identified as group A. Five cases were in this group, yet 2 remained without a clear consensus. Another controversial group, group B, was termed "brachy-polydactyly" and consisted of 3 cases where diagnoses varied between sympolydactyly, symbrachydactyly, or complex syndactyly. The Delphi-type process was feasible and effective and allowed a 93% consensus in the diagnosis of difficult-to-classify cases by the OMT Classification. There remain limitations and controversies with the OMT system, especially when classifying hands with less than 5 skeletal digits, syndactyly, and those with diagnostic overlap between ulnar longitudinal deficiency and cleft hand and those considered "brachypolydactyly." An improved understanding of the underlying etiology may be needed to determine the final diagnosis in difficult-to-classify conditions. A consensus-seeking approach is effective and feasible in addressing difficult-to-classify CULDs.

An Analysis of Associated Conditions and the Relationship Between the Severity of Hand Manifestations With That of the Forearm in Ulnar Longitudinal Deficiency

A deeper investigation of medical and musculoskeletal conditions in patients with ulnar longitudinal deficiency (ULD) is needed. The association between the severity of the manifestations of ULD in the hands and forearms has not been firmly established. The purpose of this study was to describe the medical and musculoskeletal conditions associated with ULD and examine the relationship between hand and forearm anomalies. The Congenital Upper Limb Differences registry was queried for all patients with a diagnosis of ULD, as defined by the Oberg-Manske-Tonkin classification system, between 2014 and 2020. The patients' demographic information, medical and musculoskeletal comorbidities, radiographs, and clinical images were reviewed. The participants were classified using the Bayne, Cole and Manske, and Ogino classification systems. Of 2,821 patients from the Congenital Upper Limb Differences registry, 75 patients (2.7%) with ULD (14 bilateral), with 89 affected extremities, were included. Hand anomalies were present in 93% of the patients. Approximately 19% of the patients had an associated medical comorbidity, and 20% of the patients had an associated musculoskeletal condition. Cardiac anomalies were present in 8.0% of the patients, and 12% of the patients had a lower extremity abnormality. Radial head dislocation was observed in 13 of 18 patients with Bayne type II or III ULD compared with 8 of 43 patients with other types of unilateral ULD. There was a significant positive association among the Bayne and Ogino, Bayne and Cole/Manske, and Ogino and Cole/Manske classification systems in patients with unilateral ULD. Associated medical and musculoskeletal conditions are common in patients with ULD, of which cardiac and lower extremity abnormalities are most frequently observed. There is a significant positive association between the severity of forearm anomalies and that of hand anomalies in patients with unilateral ULD. All patients with ULD should undergo a thorough cardiac evaluation by their pediatrician or a pediatric cardiologist. Symptom prevalence study III.

Ulnar longitudinal deficiency: a rare case report and review

<p class="abstract">Ulnar hemimelia is a rare postaxial partial or complete longitudinal deficiency of ulna. It has an estimated incidence of 1/100,000-150,000 live births, with a male to female ratio of 3:2. There is usually ulnar deviation of hand and shortening of forearm. Radial head subluxation and fixed flexion deformity of the hand may be associated with it. Complex carpal, metacarpal, and digital abnormalities including absence of triquetrum, capitate and three fingered hand (tridactyly) are additional findings commonly found in association. Here, we present a case of a 17-year-old female with left sided ulnar club hand due to isolated partial ulnar aplasia.</p>

Soft-Tissue Distraction Prior to Single Bone Forearm Surgery in Ulnar Longitudinal Deficiency: A Report of Two Cases

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 with Thumb.

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.

Embryology, diagnosis, and evaluation of congenital hand anomalies

Although congenital hand anomalies are rare, musculoskeletal clinicians should have a basic understanding of their clinical manifestations and the possibility of concurrent anomalies and syndromes. In this review, we provide a brief overview of the embryology of limb development and the molecular pathways involved. We also summarize the clinical manifestations, diagnostic evaluation, and principles of surgical treatment for radial longitudinal deficiency, thumb hypoplasia, ulnar longitudinal deficiency, central deficiency, syndactyly, polydactyly, and amniotic constriction band. Although one of the main goals of treatment is to provide a functional upper extremity, musculoskeletal clinicians should be aware of the clinical findings that should trigger referral to evaluate for life-threatening syndromes.

Disruption of the Radial/Ulnar Axis:Congenital Longitudinal Deficiencies

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.

Ulnar Lengthening Using a Half-Ring Sulcated External Fixator for Ulnar Longitudinal Deficiency: A Case Report

Ulnar longitudinal deficiency (ULD) is a rare condition of the upper limbs. Although radius lengthening for radial longitudinal deficiencies (RLD) was found to be successful, no ulnar lengthening for ULD without RLD and hand deformities has been reported. Herein, we present a Bayne type II ULD case report of the ulnar lengthening and gradual reduction of the dislocated radial head in an 11-year-old boy using a half-ring sulcated external fixator. For ulnar lengthening/radial longitudinal traction for radial head reduction, transverse osteotomy in mid ulna was performed and half-ring sulcated external fixator was used for ulnar distraction lengthening. Radial longitudinal traction and stabilization of external fixator were achieved by transverse pins through ulna and radius. Distraction (1 mm/day) began at 5th day and was completed at 95th postoperative day. External fixator was applied for 7 months. Successful ulnar lengthening (81 mm; 62% gain) was achieved 1-year after the surgery and the range of elbow motion at 2 years was >40°. Forearm rotation and wrist extension/flexion were also preserved with no complaints of pain. We concluded that ulnar distraction lengthening and gradual reduction of radial head could improve appearance of the arm and were of significant benefit to the patient.

Congenital Cleft Scapula With Type V Ulnar Longitudinal Deficiency: Case Report

A rare case of malformation of the scapula, a cleft scapula, has been encountered. This case is associated with type V ulnar longitudinal deficiency of the ipsilateral upper limb. The scapular malformation has been treated with fusion of the 2 parts, with good aesthetic and functional outcome. In this report, the clinical, radiological, and surgical findings, as well as the surgical technique, are described. Four cases of similar malformation have been reported in the literature, and they were described as complete scapular duplication. According to the current findings and reinterpretation of the previous reports, this malformation is better called cleft scapula rather than scapular duplication.

Congenital Longitudinal Deficiency

Radial and ulnar longitudinal deficiencies are the 2 most common types of congenital longitudinal deficiencies of the arm, with radial deficiency being 3 to 4 times more common. They are a spectrum of abnormalities, ranging from mild deficiency of the digits to complete loss of one-half the forearm, wrist, and fingers. Radial longitudinal deficiency is associated with a number of medical syndromes that require a comprehensive medical evaluation, while ulnar longitudinal deficiency (ULD) is associated with other musculoskeletal anomalies. Both conditions have a high incidence of ipsilateral thumb abnormalities. Wrist and forearm procedures, such as soft tissue distraction and centralization, are more often required in radial longitudinal deficiencies than in ULD. Elbow involvement can occur in both conditions but is more frequent and often more severe in ULD.

Type 0 Ulnar Longitudinal Deficiency

To describe the characteristics of type 0 ulnar longitudinal deficiency (ULD) in which deficiencies are present in the hand and carpus without involvement of the forearm or elbow. A retrospective chart, radiograph, and clinical photograph review (1960-2005) of patients previously diagnosed with ectrodactyly, hand hypoplasia, or ULD was performed to evaluate for a diagnosis of ULD isolated to the hand. Thirteen extremities were identified. Three extremities had complete absence of the small-finger ray (phalanges and metacarpal) and 6 extremities had complete absence of the ring- and small-finger rays. Four hands showed hypoplasia of the small finger, 3 in conjunction with a ring- and small-metacarpal synostosis and 1 in isolation. Three extremities also had radial-sided hypoplasia or aplasia of the rays. Additional common findings included simple syndactyly, delta phalanx, and carpal fusions, most commonly of the capitohamate joint. Patients with isolated ulnar-sided hand deficiency such as ectrodactyly of the ring and/or small fingers or synostosis of the small metacarpal of the ring finger in the presence of a normal forearm may be diagnosed as having type 0 ULD. We propose that type 0 be added to the current classification systems for ULD representing those extremities with deficiencies isolated to the hand.

Déficiences longitudinales ulnaires : proposition d’une classification descriptive

Ulnar longitudinal deficiency is an extended malformation sometimes involving the whole upper extremity, even including sometimes the opposite side. The clinical and radiological aspects are variable and none of the existing classifications takes into account all the possible deformities. Multiple decisive factors in the surgical indications are missing such as shoulder stability, elbow position (extension or flexion with or without pterygium), orientation of the hand (internal rotation), wrist inclination and number of digits. Based on a review of our 46 clinical cases as well as the published cases in the literature we have developed a simple way to describe each level.

The ulnar longitudinal deficiency. New classification based on a review of 46 cases

The ulnar longitudinal deficiency. New classification based on a review of 46 cases