GLI3-related polydactyly: a review.

GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detailed review of the genotype-phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing GLI3-related syndromes/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS. The review also introduces the term 'Forme Fruste' preaxial polydactyly and gives several conclusions/recommendations including the recommendation to revise the current criteria for the clinical diagnosis of PHS.

Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.

This paper reviews the molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia-aplasia) (AARRS) syndrome and Fuhrmann syndrome. Human WNT7A mutations are also reviewed. Based on this review, these mutations will be classified into two main groups of phenotypes: Fuhrmann and AARRS phenotypes in which there is partial and complete loss of WNT7A functions, respectively.

Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology.

Fanconi anemia is known to be associated with radial ray deficiency (thumb and radius hypoplasia), and its embryological basis remains to be poorly understood. We describe a rare case of Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia. The embryological basis of limb abnormalities in Fanconi anemia patients is thought to be based on the complex interactions between the apical ectodermal ridge (where Fanconi anemia genes are expressed) and both the mesoderm (where Spalt-like 4 (SALL4) and Sonic hedgehog (SHH) are located and which are responsible for radial ray deficiency, thumb polydactyly, and triphalangism) and the dorsoventral axis (an error in that axis leads to dorsal dimelia).

Collagenoma in a child with tuberous sclerosis complex causing carpal tunnel syndrome and thumb overgrowth: case report.

We report on a child with tuberous sclerosis complex who had progressive enlargement of a collagenoma of the right hand. The tumor resulted in median nerve compressive neuropathy and overgrowth of the thumb. Debulking of the tumor along with median nerve decompression was performed with relief of neurological symptoms. No recurrence of the symptoms was observed during the 1-year follow-up after surgery. To the best of our knowledge, this is the first report of a deep collagenoma in any anatomical location.

Complications related to Artecoll injections for soft tissue augmentation of the hand: 3 case reports.

Rejuvenation of the aging hand has gained recent popularity. I report on 3 cases with complications related to the use of Artecoll (a permanent filler composed of polymethylmethacrylate) in soft tissue augmentation of the hand. All 3 patients had late-onset granuloma reactions, and the acute attacks were successfully treated with local injections of triamcinolone. However, recurrent reactions and hypopigmentation at the injection sites were noted.

Tuberculosis of the hand.

There has been recent interest in tuberculosis of the hand because of a rising incidence owing to increasing numbers of immigration, an aging population, and immunosuppressed people including affected patients with human immunodeficiency virus. In this article, we review the epidemiology, bacteriology, pathophysiology, diagnosis, and principles of treatment of tuberculosis of the hand. The second part of the report emphasizes the classification of hand tuberculosis (cutaneous lesions, tenosynovitis, bursitis, osteomyelitis, arthritis, and tuberculous hypersensitivity reactions) along with the classic presentations of each of these hand lesions.

Nonunion and avascular necrosis following phalangeal neck fractures in children.

PURPOSE: To investigate the characteristics of nonunion and avascular necrosis following phalangeal neck fracture in children. METHODS: A cohort of all pediatric phalangeal neck fractures complicated by nonunion, with or without avascular necrosis of the phalangeal head, over the last 10 years was reviewed retrospectively. The following data were documented: age, gender, fracture site, mechanism of injury, fracture type, presence of digital ischemia, initial management, and outcome. RESULTS: Our database of phalangeal neck fractures in children over the last 10 years included 215 fractured digits. Of these, 4 developed nonunion (group A) and 8 developed nonunion with avascular necrosis (group B). All patients in group A were young children (mean age, 2.5 y) with fractured thumbs, initially managed by closed reduction and splinting. The fractures redisplaced and failed to unite, resulting in instability that was later treated by bone grafting and stabilization with a K-wire. Patients in group B were older children (mean age, 5.6 y) and 7 of 8 had finger fractures. All 8 patients presented with stiffness of the affected joint, and no further surgery was performed. CONCLUSIONS: When nonunion occurs following pediatric phalangeal neck fractures, it usually affects the thumb and presents with thumb instability, and bone grafting is often required to achieve union. In contrast, avascular necrosis following phalangeal neck fractures usually affects the little finger and presents with stiffness, and hence, further surgery is not often required short term, although the long-term result after skeletal maturity is unknown. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Ulnar nerve to musculocutaneous nerve transfer in an ulnar ray-deficient infant with brachial plexus birth palsy: case report.

In Oberlin's nerve transfer, a fascicle of the ulnar nerve is sutured end-to-end to the branch of musculocutaneous nerve to the biceps muscle in the arm. This transfer is commonly used in adult traumatic C5-C6 avulsion injuries of the brachial plexus. We report the successful use of Oberlin nerve transfer in an ulnar ray-deficient infant with brachial plexus birth palsy.

Z-plasty for Tanzer type IIb constricted ears.

This article describes the Z-plasty technique for Tanzer type IIb constricted ears. The technique was used in 6 patients to lengthen the upper pole of the ear with simultaneous unfurling of the cupping deformity. All patients also underwent creation of an antihelix with Mustarde sutures as well as a "mastoid hitch" (sutures between the upper pole of the ear and the mastoid fascia) to prevent recurrence. After a mean follow-up of 1.5 years, all patients were satisfied with no recurrence of the deformity. The advantages and disadvantages of the Z-plasty are discussed and compared with other techniques.

Spare-part fillet cross-finger flaps: A series of two cases.

INTRODUCTION: The concept of 'spare-part' flaps in hand reconstruction is most commonly applied using finger fillet flaps to cover dorsal or volar hand defects. In this paper, we introduce the concept of utilization of spare-part finger fillet flaps in a cross-finger fashion. CASE REPORTS: The technique is demonstrated in two case reports. In both cases, there was one finger that was severely crushed requiring amputation. The bones from that finger were removed and the fillet finger flap was utilized to reconstruct a complex defect in an adjacent digit. Immediate post-operative physiotherapy was employed and flap division was done 17-18 days later. Both patients were satisfied with the outcome and returned back to work as manual workers. DISCUSSION: Differences between previous techniques / types of cross-finger flaps and the current spare-part fillet cross-finger flap technique are discussed. CONCLUSION: We introduce the concept of utilization of spare-part finger fillet flaps in a cross-finger fashion.

Time of return back to work and complications following cross-finger flaps in industrial workers: Comparison between immediate post operative mobilization versus immobilization until flap division.

INTRODUCTION: Previous authors have immobilized the injured hand or digits following cross finger flaps. PATIENTS AND METHODS: About 3 years ago, the author adopted a protocol of immediate postoperative active and passive mobilization (without a splint) following cross finger flap surgery in industrial workers. The current study is a retrospective audit comparing postoperative complications and time of return back to work following cross-finger flaps in two groups of injured industrial workers: Group I (n=12) had immediate postoperative mobilization; and Group II (n=12) had immobilization till the time of flap division. RESULTS: The complication rate was similar in both groups. However, patients in Group I returned to work earlier than those in group II and the difference was statistically significant. CONCLUSION: Immediate postoperative mobilization following cross-finger flaps in industrial workers does not increase the risk of complications and has the advantage of early return to work.

Penile reconstruction in a newborn following complicated circumcision: A case report.

INTRODUCTION: Grade V post-circumcision penile injury is known as "total phallic loss". It is usually seen with the use of mono-polar electro-cautery for circumcision resulting in penile necrosis. We report on a newborn treated by release of the subcutaneous corporal remnant and explain why this option should be considered of choice in cautery-related Grade V injuries. REPORT OF A CASE: A 25-day old Saudi Arabian newborn with Grade V penile injury underwent reconstruction at our tertiary-care center. Upon exploration, the remnant part of the penis under the suprapubic skin was 2.6 cm. This included the root of the penis (estimated to be 1.8 cm long in the newborn) as well as an extra 0.8 cm of corporal length from the pendulous part of the penis which has retracted under the skin. Full release of the suspensory ligament was done. The result at 6 months was satisfactory both functionally and cosmetically. DISCUSSION: Options of management of Grade V injuries include sex-reassignment, phallic reconstruction using flaps, and release of the subcutaneous corporal remnant. We demonstrate that the latter option should be considered of choice in cautery-related Grade V injuries because there is usually preservation of the most proximal part of the corpora of the shaft which becomes retracted under the skin. Hence, the released remnant is of adequate length. CONCLUSION: Post-circumcision Grade V penile injuries of the newborn are best reconstructed with release of the subcutaneous corporal remnant. The neophallus is erectile and has an acceptable length and appearance.

Air gun pellet injuries of the hand.

The purpose of this paper is to report our experience in a group of patients who suffered injuries by air gun pellets to the hand. There were 22 males and 2 females, with a mean age of 12 years. The pellet was embedded in the hand in 18 patients and it went through and through in the remaining six. There were no vascular injuries. Associated injuries to tendon, nerve or bone occurred in six patients. There was little soft-tissue devitalization and none of the fractures required fixation or splinting. Immediate postoperative mobilization resulted in full range of motion in all patients. In conclusion, pellets produce a different injury pattern, with a more benign course, than other types of bullet injury.

The anatomical site of constriction of the median nerve in patients with severe idiopathic carpal tunnel syndrome.

During open carpal tunnel release in patients with severe idiopathic carpal tunnel syndrome, an area of constriction in the substance of the median nerve is frequently noted. In a prospective study of 30 patients, the central point of the constricted part of the nerve was determined intraoperatively and found to be, on average, 2.5 (range 2.2-2.8)cm from the distal wrist crease. This point always corresponded to the location of the hook of the hamate bone. These intraoperative findings were compared with the "narrowest" point of the carpal canal as determined by anatomical and radiological studies in the literature.

Phalangeal neck fractures in adults.

The author investigated the pattern of injury and outcome of management in 11 adults with phalangeal neck fractures. The mean age was 40 years. The fracture occurred at the neck of the proximal phalanx of the thumb in seven cases and at the neck of the middle phalanx of the fingers in the remaining four cases. One patient had an undisplaced (Type I) fracture and was treated with splinting; the final result was graded as excellent. Nine patients had Type II fractures (the displaced distal fragment maintaining bone-to-bone contact with the proximal fragment) and all patients were treated with closed reduction and single K-wire fixation. The final outcome of Type II fractures was considered good in eight patients and fair in one patient. One patient had a Type III fracture (the displaced distal fragment was rotated 180 degrees with no bone-to-bone contact with the proximal fragment). The fracture required open reduction and K-wire fixation and the final result was poor.

Metacarpal shaft fractures of the fingers: treatment with interosseous loop wire fixation and immediate postoperative finger mobilisation in a wrist splint.

It is widely believed that interosseous loop wire fixation of metacarpal shaft fractures alone is not rigid enough to allow immediate postoperative mobilisation. In this report, the author reviews the results in 36 cases of metacarpal shaft fractures of the fingers treated by interosseous loop wire fixation and immediate postoperative mobilisation of all finger joints. The study included 30 males and six females, with a mean age of 31 (range 12-52) years. The fracture pattern was transverse in 26 and oblique, or spiral, in the remaining 10 patients. Following loop wire fixation, the wrist was immobilised using a volar plaster splint for 3 weeks but all finger joints were mobilised immediately after surgery. After a mean follow-up of 8 weeks, all patients, except two, had regained full range of motion of the fingers and no complications were noted. It was concluded that interosseous loop wire fixation of metacarpal shaft fractures is rigid enough to allow immediate postoperative finger mobilisation in a wrist splint and achieve good functional results.

Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly.

A family with middle-ring-little finger syndactyly is reported to demonstrate that the responsible autosomal gene may be expressed as either simple syndactyly or synpolydactyly.

Use of the medial upper arm fascia to bridge biceps tendon defects.

Options to bridge biceps tendon defects which have been described in the literature include fascia lata, semitendinosus tendon, flexor carpi radialis, Achilles tendon-calcaneus composite allografts and Achilles tendon allografts. In this study, the author reports the use of the upper arm fascia. This option is considered most suitable for patients who require simultaneous pedicled latissimus dorsi flap coverage of concurrent traumatic complex anterior elbow defects.